ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658655277
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
441196
ClinVar RCV Id:
RCV000509206
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Cys289Tyr
CA404080788
NM_000527.5:c.866G>A