ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA238700
Gene: TMEM216
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193189
ClinVar RCV Id:
RCV000173235
RCV000345023
RCV000391281
RCV001094053
RCV004535185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167462.1:p.Leu2Pro
CA238698
NM_001173991.3:c.5T>C