ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826214921
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000003883
RCV000806811
RCV000985760
RCV002381240
RCV004017226
ClinVar Variation:
3695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Ala263Thr
CA023445
NM_001195800.2:c.787G>A