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: PA2826738890

Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1475477

ClinVar RCV Id: RCV002007883

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274175.1:p.Lys1337Glu	CA393851220 NM_001287246.2:c.4009A>G