Canonical Allele Identifier: PA913195155
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 628058
ClinVar RCV Id: RCV000772356
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asn330Lys
CA404082688
NM_000527.5:c.990T>A
CA404082689
NM_000527.5:c.990T>G