Canonical Allele Identifier: PA2826216341
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 977987
ClinVar RCV Id: RCV001255940 RCV001879947
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys213Phe
CA031192
NM_001195803.2:c.638G>T