Canonical Allele Identifier: PA2826214490
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251505

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Asn129His
CA10585178
NM_001195800.2:c.385A>C