ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826213360
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251886
ClinVar RCV Id:
RCV000237591
RCV001177034
RCV002401935
RCV004017558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Thr469Met
CA034662
NM_001195799.2:c.1406C>T