Canonical Allele Identifier: PA1139684967
Gene: LDLR HGNC NCBI
ClinVar RCV:
RCV001251451
ClinVar Variation:
870321
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Gly396Arg
CA404083996
NM_001195798.2:c.1186G>C