ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA184528
Gene: TMEM43
HGNC
NCBI
Linked Data
ClinVar Variation Id:
179489
ClinVar RCV Id:
RCV000156279
RCV000247251
RCV000642410
RCV001186917
RCV001731402
RCV002484950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077310.1:p.Thr143Met
CA024692
NM_024334.3:c.428C>T