ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826213269
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251838
ClinVar RCV Id:
RCV000237250
RCV000780376
RCV001177032
RCV003329271
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Asp436Asn
CA034365
NM_001195799.2:c.1306G>A