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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2735343200
Gene: GALR1
HGNC
NCBI
Linked Data
dbSNP Id:
rs778523845
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.77268566_77268567insACT , CM000680.2:g.77268566_77268567insACT
GRCh38
NC_000018.9:g.74980522_74980523insACT , CM000680.1:g.74980522_74980523insACT
GRCh37
NC_000018.8:g.73109510_73109511insACT
NCBI36
NG_009223.1:g.23515_23516insACT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000299727.5:c.733-19_733-18insACT
MANE Select
ENSP00000299727.3:n.733-19_733-18insACT
ENST00000299727.4:c.733-19_733-18insACT
ENSP00000299727.3:n.733-19_733-18insACT
NM_001480.3:c.733-19_733-18insACT
NP_001471.2:n.733-19_733-18insACT
NM_001480.4:c.733-19_733-18insACT
MANE Select
NP_001471.2:n.733-19_733-18insACT
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