Allele Registry

Canonical Allele Identifier: PA2826216946

Gene: LDLR HGNC NCBI

ClinVar Allele:

246259

ClinVar RCV:

RCV000237367

ClinVar Variation:

251955

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Gly422Val	CA10585545 NM_001195803.2:c.1265G>T