Canonical Allele Identifier: PA645376260
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251267
ClinVar RCV Id: RCV000237481 RCV003581601
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp172His
CA10584958
NM_000527.5:c.514G>C