Canonical Allele Identifier: PA100866
Gene: LDLR HGNC NCBI
ClinVar RCV:
RCV000238365
ClinVar Variation:
252000
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Trp577Gly
CA10585585
NM_000527.5:c.1729T>G