Canonical Allele Identifier: PA2825178422
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 689348
ClinVar RCV Id: RCV000850044
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Pro309His
CA404081066
NM_000527.5:c.926C>A