ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499304298
Gene: ADAMTS18
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1053441
ClinVar RCV Id:
RCV001361786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955387.1:p.Ser596Leu
CA8181161
NM_199355.4:c.1787C>T