ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000857
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183129
ClinVar RCV Id:
RCV000162006
RCV000237649
RCV003330519
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Met652Val
CA023615
NM_001195798.2:c.1954A>G