ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826213844
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3702
ClinVar RCV Id:
RCV000003891
RCV000162007
RCV000775085
RCV000844731
RCV002415395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Pro644Leu
CA023628
NM_001195799.2:c.1931C>T