Allele Registry

Canonical Allele Identifier: PA2826737474

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000667667

ClinVar Variation:

71979

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274175.1:p.His660Tyr	CA274739524 NM_001287246.2:c.1978C>T