ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826213626
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226374
ClinVar RCV Id:
RCV000211659
RCV004020585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Leu564Pro
CA10576320
NM_001195799.2:c.1691T>C