Canonical Allele Identifier: PA915999219
Gene: LDLR HGNC NCBI
ClinVar RCV:
RCV000237933
ClinVar Variation:
251517
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp304Tyr
CA10585188
NM_001195798.2:c.910G>T