ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645379551
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252035
ClinVar RCV Id:
RCV000237846
RCV002518488
RCV003165670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Leu599Ser
CA10585616
NM_000527.5:c.1796T>C