ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826216759
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
440643
ClinVar RCV Id:
RCV000508973
RCV002524933
RCV002395230
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Leu352Val
CA404086017
NM_001195803.2:c.1054C>G