ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916074111
Gene: TMEM43
HGNC
NCBI
Linked Data
ClinVar Variation Id:
663309
ClinVar RCV Id:
RCV003169021
RCV000821164
RCV001191358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077310.1:p.Cys354Phe
CA051109
NM_024334.3:c.1061G>T