ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825041403
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
843255
ClinVar RCV Id:
RCV001045833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Tyr974Ser
CA393846420
NM_000057.4:c.2921A>C