ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211577
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
36453
ClinVar RCV Id:
RCV000030125
RCV000844747
RCV001034664
RCV001537253
RCV002051647
RCV002362601
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Glu408Lys
CA023437
NM_000527.5:c.1222G>A