ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825208611
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1474520
ClinVar RCV Id:
RCV001973440
RCV002352683
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Cys204Arg
CA404077804
NM_000527.5:c.610T>C