ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580196995
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1797380
ClinVar RCV Id:
RCV002438005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274176.1:p.Pro967Ser
CA393846372
NM_001287247.2:c.2899C>T