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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:
CA2642312186
Gene: GALR1
HGNC
NCBI
Linked Data
gnomAD v4:
18-77268556-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.77268557del , CM000680.2:g.77268557del
GRCh38
NC_000018.9:g.74980513del , CM000680.1:g.74980513del
GRCh37
NC_000018.8:g.73109501del
NCBI36
NG_009223.1:g.23506del
Transcript Alleles
HGVS
Amino-acid change
ENST00000299727.5:c.733-28del
MANE Select
ENSP00000299727.3:n.733-28del
ENST00000299727.4:c.733-28del
ENSP00000299727.3:n.733-28del
NM_001480.3:c.733-28del
NP_001471.2:n.733-28del
NM_001480.4:c.733-28del
MANE Select
NP_001471.2:n.733-28del
Search 100 bp 5'
Search 100 bp 3'