Canonical Allele Identifier: PA2573067264
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1331775
ClinVar RCV Id: RCV001804291 RCV003318691 RCV004040910
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gly76Arg
CA042515
NM_001195803.2:c.226G>C
CA404075573
NM_001195803.2:c.226G>A