ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826740178
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
824529
ClinVar RCV Id:
RCV001021729
RCV003614075
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274176.1:p.Arg1216Gly
CA393851409
NM_001287247.2:c.3646A>G