ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108899
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
162048
ClinVar RCV Id:
RCV000149470
RCV000290037
RCV000305281
RCV000345001
RCV000403533
RCV002516006
RCV002516005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068602.2:p.Arg391His
CA174962
NM_021830.4:c.1172G>A