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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:
CA2190318746
Gene:
Linked Data
dbSNP Id:
rs2040975448
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.80139925_80139927del , CM000677.2:g.80139925_80139927del
GRCh38
NC_000015.9:g.80432267_80432269del , CM000677.1:g.80432267_80432269del
GRCh37
NC_000015.8:g.78219322_78219324del
NCBI36
Search 100 bp 5'
Search 100 bp 3'