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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:
CA2763876273
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.144601413_144601415del , CM000666.2:g.144601413_144601415del
GRCh38
NC_000004.11:g.145522565_145522567del , CM000666.1:g.145522565_145522567del
GRCh37
NC_000004.10:g.145742015_145742017del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000649263.1:c.328-185436_328-185434del
ENSP00000497507.1:n.328-185436_328-185434del
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