Canonical Allele Identifier: PA2580170123
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2190467
ClinVar RCV Id: RCV002616406 RCV003738299
ClinVar Variation Id: 2615812
ClinVar RCV Id: RCV004358870
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.His407Gln
CA033103
NM_001195798.2:c.1221C>A
CA404084714
NM_001195798.2:c.1221C>G