Allele Registry

Canonical Allele Identifier: PA916000998

Gene: LDLR HGNC NCBI

ClinVar Allele:

434850

ClinVar RCV:

RCV000509393

ClinVar Variation:

441227

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Pro685Gln	CA404093679 NM_001195798.2:c.2054C>A