Canonical Allele Identifier: PA645379985
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252129
ClinVar RCV Id: RCV000238503 RCV001854909
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val653Phe
CA10585695
NM_000527.5:c.1957G>T