ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573191977
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1461979
ClinVar RCV Id:
RCV001968225
RCV002324412
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Ala668Val
CA393846896
NM_001287248.2:c.2003C>T