Canonical Allele Identifier: PA916000264
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440649
ClinVar RCV Id: RCV000508709
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Lys507Asn
CA404086505
NM_001195798.2:c.1521G>C
CA404086506
NM_001195798.2:c.1521G>T