Allele Registry

Canonical Allele Identifier: PA916002039

Gene: LDLR HGNC NCBI

ClinVar Allele:

245473

ClinVar RCV:

RCV000237777

ClinVar Variation:

251130

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Cys104Phe	CA10584839 NM_001195803.2:c.311G>T