ClinGen Allele Registry
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Canonical Allele Identifier:
PA915999741
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226350
ClinVar RCV Id:
RCV000211653
RCV001249013
RCV002336590
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Ala399Asp
CA10576301
NM_001195798.2:c.1196C>A