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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:
CA2719849751
Gene:
Linked Data
dbSNP Id:
rs2118388789
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.78753643_78753655del , CM000671.2:g.78753643_78753655del
GRCh38
NC_000009.11:g.81368559_81368571del , CM000671.1:g.81368559_81368571del
GRCh37
NC_000009.10:g.80558379_80558391del
NCBI36
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