Canonical Allele Identifier: PA645375685
Gene: LDLR HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp100Glu
CA16609802
NM_000527.5:c.300C>A
CA404075813
NM_000527.5:c.300C>G