ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830161392
Gene: ADAMTS14
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2294952
ClinVar RCV Id:
RCV004144819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542453.2:p.Cys995Arg
CA5540302
NM_080722.4:c.2983T>C