Allele Registry

Canonical Allele Identifier: PA2573191808

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV001889856

RCV003303271

ClinVar Variation:

1377236

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Thr843Ile	CA274743571 NM_001287247.2:c.2528C>T