ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915999610
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000238254
RCV001854900
ClinVar Variation:
251674
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Gly373Val
CA10585313
NM_001195798.2:c.1118G>T