Allele Registry

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.

Canonical Allele Identifier: PA2826740155

Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 961255

ClinVar RCV Id: RCV001234922 RCV002375247

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Arg1205Gly	CA393851199 NM_001287247.2:c.3613A>G