ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826214120
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252343
ClinVar RCV Id:
RCV000238350
RCV001182071
RCV002446481
RCV003736672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Pro785Thr
CA10585870
NM_001195799.2:c.2353C>A