ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826096392
Gene: TMEM216
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167461.1:p.Arg115Cys
CA6034749
NM_001173990.3:c.343C>T