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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:
CA2770521788
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31826636_31826637del , CM000668.2:g.31826636_31826637del
GRCh38
NC_000006.11:g.31794413_31794414del , CM000668.1:g.31794413_31794414del
GRCh37
NC_000006.10:g.31902392_31902393del
NCBI36
Search 100 bp 5'
Search 100 bp 3'