Allele Registry

Canonical Allele Identifier: PA916015758

Gene: BLM HGNC NCBI

ClinVar Allele:

132971

3731238

ClinVar RCV:

RCV000115322

RCV000326657

RCV001025851

RCV004999070

ClinVar Variation:

127514

3572338

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Ser232Arg	CA287145 NM_001287247.2:c.696C>A CA393841357 NM_001287247.2:c.694A>C CA393841362 NM_001287247.2:c.696C>G