Canonical Allele Identifier: PA916001689
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251019
ClinVar RCV Id: RCV000238421
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys34Ser
CA10584753
NM_001195803.2:c.101G>C
CA404074691
NM_001195803.2:c.100T>A