Canonical Allele Identifier: PA2826216740
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1440720
ClinVar RCV Id: RCV001978929
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gln347His
CA404085917
NM_001195803.2:c.1041G>C
CA404085919
NM_001195803.2:c.1041G>T