ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826214544
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251531
ClinVar RCV Id:
RCV000237873
RCV002251448
RCV002223827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Lys143Thr
CA10585200
NM_001195800.2:c.428A>C