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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:
CA2770551015
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32696123_32696126del , CM000668.2:g.32696123_32696126del
GRCh38
NC_000006.11:g.32663900_32663903del , CM000668.1:g.32663900_32663903del
GRCh37
NC_000006.10:g.32771878_32771881del
NCBI36
Search 100 bp 5'
Search 100 bp 3'