Allele Registry

Canonical Allele Identifier: PA658802447

Gene: BLM HGNC NCBI

ClinVar Allele:

529703

ClinVar RCV:

RCV000628614

RCV002448923

ClinVar Variation:

524755

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Asn82Ser	CA393839943 NM_000057.4:c.245A>G