ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827256324
Gene: ADAMTS12
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2200445
ClinVar RCV:
RCV004076759
ClinVar Variation:
2208351
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311441.1:p.Ile378Val
CA116887498
NM_001324512.2:c.1132A>G