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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:
CA1664582552
Gene:
Linked Data
dbSNP Id:
rs1776661344
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.132572480del , CM000668.2:g.132572480del
GRCh38
NC_000006.11:g.132893619del , CM000668.1:g.132893619del
GRCh37
NC_000006.10:g.132935312del
NCBI36
NG_016544.1:g.7159del
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