ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826212441
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251339
ClinVar RCV Id:
RCV000237990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Trp173Ser
CA10585028
NM_001195799.2:c.518G>C