Canonical Allele Identifier: PA645379673
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252060
ClinVar RCV Id: RCV000238442
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala612Ser
CA10585640
NM_000527.5:c.1834G>T