Canonical Allele Identifier: PA645378423
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251778
ClinVar RCV Id: RCV000237902 RCV000489496 RCV001063423 RCV003372664
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val436Ala
CA033539
NM_000527.5:c.1307T>C