Allele Registry

Canonical Allele Identifier: PA287147

Gene: BLM HGNC NCBI

ClinVar Allele:

132971

ClinVar RCV:

RCV000115322

RCV000326657

RCV001025851

ClinVar Variation:

127514

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Ser232Arg	CA287145 NM_000057.4:c.696C>A CA393841357 NM_000057.4:c.694A>C CA393841362 NM_000057.4:c.696C>G