Allele Registry

Canonical Allele Identifier: PA916000616

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237764

RCV000509386

ClinVar Variation:

252014

441220

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.His583Gln	CA10585596 NM_001195798.2:c.1749C>A CA404089716 NM_001195798.2:c.1749C>G