ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA238699
Gene: TMEM216
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167461.1:p.Leu2Pro
CA238698
NM_001173990.3:c.5T>C