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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:
CA2500245277
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.145347749del , CM000664.2:g.145347749del
GRCh38
NC_000002.11:g.146105317del , CM000664.1:g.146105317del
GRCh37
NC_000002.10:g.145821787del
NCBI36
Search 100 bp 5'
Search 100 bp 3'