ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826215800
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
440691
ClinVar RCV Id:
RCV000508779
RCV000800276
RCV002455982
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Val607Ala
CA039797
NM_001195800.2:c.1820T>C