Canonical Allele Identifier: PA645377630
Gene: LDLR HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp304Glu
CA10576290
NM_000527.5:c.912C>G
CA404081042
NM_000527.5:c.912C>A