ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826217275
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001351643
ClinVar Variation:
1047002
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Thr543Ala
CA404094808
NM_001195803.2:c.1627A>G