Canonical Allele Identifier: PA916000917
Gene: LDLR HGNC NCBI
ClinVar Allele:
362719
ClinVar RCV:
RCV000417270
ClinVar Variation:
375827
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Pro661Leu
CA16602341
NM_001195798.2:c.1982C>T