Canonical Allele Identifier: PA2826216394
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251643
ClinVar RCV Id: RCV000238202 RCV000522393 RCV001182457 RCV002411083 RCV003387819
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp229Asn
CA031880
NM_001195803.2:c.685G>A