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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:
CA2510564207
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.145347556_145347558del , CM000664.2:g.145347556_145347558del
GRCh38
NC_000002.11:g.146105124_146105126del , CM000664.1:g.146105124_146105126del
GRCh37
NC_000002.10:g.145821594_145821596del
NCBI36
Search 100 bp 5'
Search 100 bp 3'