Canonical Allele Identifier: PA2826217028
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252009
ClinVar RCV Id: RCV000237863
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp452Glu
CA10585592
NM_001195803.2:c.1356C>G
CA404089696
NM_001195803.2:c.1356C>A