Canonical Allele Identifier: PA2826217192
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 548081
ClinVar RCV Id: RCV000660719 RCV000780384 RCV001835064
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Leu507Phe
CA404092789
NM_001195803.2:c.1519C>T