ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826212749
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226337
ClinVar RCV Id:
RCV000211683
RCV000786353
RCV001179372
RCV002372215
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Ser265Leu
CA10576291
NM_001195799.2:c.794C>T