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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:
CA2668472122
Gene:
Linked Data
gnomAD v4:
3-169764565-G-GAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169764565_169764566insAA , CM000665.2:g.169764565_169764566insAA
GRCh38
NC_000003.11:g.169482353_169482354insAA , CM000665.1:g.169482353_169482354insAA
GRCh37
NC_000003.10:g.170965047_170965048insAA
NCBI36
NG_016363.1:g.5495_5496insTT , LRG_347:g.5495_5496insTT
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