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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:
CA1098599452
Gene:
Linked Data
gnomAD v3:
7-13514384-A-AATG
gnomAD v4:
7-13514384-A-AATG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.13514384_13514385insATG , CM000669.2:g.13514384_13514385insATG
GRCh38
NC_000007.13:g.13554009_13554010insATG , CM000669.1:g.13554009_13554010insATG
GRCh37
NC_000007.12:g.13520534_13520535insATG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745097.1:n.148-187932_148-187931insATG
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