ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826740171
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
848759
ClinVar RCV Id:
RCV001052584
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274176.1:p.Ser1211Phe
CA7739176
NM_001287247.2:c.3632C>T