ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826740161
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2566834
ClinVar RCV Id:
RCV003306765
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274176.1:p.Met1208Val
CA393851263
NM_001287247.2:c.3622A>G