ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658742245
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496019
ClinVar RCV Id:
RCV000589406
RCV002279959
RCV002530906
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Pro526His
CA404086609
NM_000527.5:c.1577C>A