ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827042205
Gene: NMD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161698
ClinVar RCV Id:
RCV000149234
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307156.1:p.Thr168Ile
CA174617
NM_001320227.2:c.503C>T