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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:
CA2770551017
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32696131_32696132del , CM000668.2:g.32696131_32696132del
GRCh38
NC_000006.11:g.32663908_32663909del , CM000668.1:g.32663908_32663909del
GRCh37
NC_000006.10:g.32771886_32771887del
NCBI36
Search 100 bp 5'
Search 100 bp 3'