ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826214682
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251640
ClinVar RCV Id:
RCV000237971
RCV000771574
RCV000786347
RCV003380529
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Asp186Val
CA10585282
NM_001195800.2:c.557A>T