Allele Registry

Canonical Allele Identifier: PA2826217042

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237764

RCV000509386

ClinVar Variation:

252014

441220

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.His456Gln	CA10585596 NM_001195803.2:c.1368C>A CA404089716 NM_001195803.2:c.1368C>G