Canonical Allele Identifier: PA916000459
Gene: LDLR HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asn548Lys
CA10585541
NM_001195798.2:c.1644T>A
CA10585542
NM_001195798.2:c.1644T>G