Canonical Allele Identifier: PA2826217320
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431544
ClinVar RCV Id: RCV000497201

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ser572Phe
CA404095337
NM_001195803.2:c.1715C>T