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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:
CA2750533381
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.75977909_75977913del , CM000664.2:g.75977909_75977913del
GRCh38
NC_000002.11:g.76205035_76205039del , CM000664.1:g.76205035_76205039del
GRCh37
NC_000002.10:g.76058543_76058547del
NCBI36
Search 100 bp 5'
Search 100 bp 3'