ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826214332
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226308
ClinVar RCV Id:
RCV000211622
RCV002426990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Cys75Tyr
CA10576270
NM_001195800.2:c.224G>A