ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915999324
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251572
ClinVar RCV Id:
RCV000237508
RCV001176043
RCV002379057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Cys318Phe
CA10585227
NM_001195798.2:c.953G>T