Canonical Allele Identifier: PA2825040444
Gene: BLM HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Met439Ile
CA393842797
NM_000057.4:c.1317G>A
CA393842798
NM_000057.4:c.1317G>C
CA393842799
NM_000057.4:c.1317G>T