Allele Registry

Canonical Allele Identifier: PA645379437

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237764

RCV000509386

ClinVar Variation:

252014

441220

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.His583Gln	CA10585596 NM_000527.5:c.1749C>A CA404089716 NM_000527.5:c.1749C>G