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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:
CA1467354789
Gene: GC
HGNC
NCBI
Linked Data
dbSNP Id:
rs1742944877
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.71790618_71790622del , CM000666.2:g.71790618_71790622del
GRCh38
NC_000004.11:g.72656335_72656339del , CM000666.1:g.72656335_72656339del
GRCh37
NC_000004.10:g.72875199_72875203del
NCBI36
NG_012837.2:g.19901_19905del
NG_012837.3:g.19901_19905del
Transcript Alleles
HGVS
Amino-acid change
ENST00000504199.5:c.22-6566_22-6562del
ENSP00000421725.1:n.22-6566_22-6562del
NM_001204306.1:c.-36-6566_-36-6562del
NP_001191235.1:n.-36-6566_-36-6562del
NM_001204307.1:c.22-6566_22-6562del
NP_001191236.1:n.22-6566_22-6562del
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