ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827293472
Gene: TMEM216
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2714687
ClinVar RCV Id:
RCV003496488
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317214.1:p.Gly7Val
CA380685151
NM_001330285.2:c.20G>T