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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:
CA1474506511
Gene:
Linked Data
dbSNP Id:
rs1723906362
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.87884070del , CM000666.2:g.87884070del
GRCh38
NC_000004.11:g.88805222del , CM000666.1:g.88805222del
GRCh37
NC_000004.10:g.89024246del
NCBI36
Search 100 bp 5'
Search 100 bp 3'