ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826215554
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252143
ClinVar RCV Id:
RCV000238331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Gln492Lys
CA10585705
NM_001195800.2:c.1474C>A