ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826212898
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251619
ClinVar RCV Id:
RCV000237312
RCV001387172
RCV003477852
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Cys311Phe
CA10585269
NM_001195799.2:c.932G>T