ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913195372
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
633289
ClinVar RCV Id:
RCV000781502
RCV001825537
RCV002501019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Arg662Lys
CA404093337
NM_000527.5:c.1985G>A