ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826215012
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183114
ClinVar RCV Id:
RCV000161986
RCV000237809
RCV001041965
RCV002390393
RCV003895080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Tyr297Asn
CA023482
NM_001195800.2:c.889T>A