ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826741755
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3224660
ClinVar RCV Id:
RCV004521350
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Asp941Gly
CA393850816
NM_001287248.2:c.2822A>G