ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826741280
Gene: BLM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Pro493Gln
CA393845693
NM_001287248.2:c.1478C>A