Allele Registry

Canonical Allele Identifier: PA287060

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000115281

RCV000234473

RCV000574443

RCV001818261

ClinVar Variation:

127475

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Met439Val	CA287058 NM_000057.4:c.1315A>G