ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916016623
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
701143
ClinVar RCV Id:
RCV000869579
RCV003483746
RCV002363252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Glu918Gly
CA7739152
NM_001287248.2:c.2753A>G