ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826215775
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161262
ClinVar RCV Id:
RCV000162013
RCV000237277
RCV000780383
RCV001186237
RCV002051655
RCV003162605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Thr593Met
CA023656
NM_001195800.2:c.1778C>T