ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826212412
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430759
ClinVar RCV Id:
RCV000495919
RCV003741192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Leu164Val
CA404077826
NM_001195799.2:c.490C>G