ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916060079
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
694394
ClinVar RCV Id:
RCV000855727
RCV001869311
RCV002538880
RCV003389251
RCV003446489
RCV004538170
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068602.2:p.Arg265Cys
CA5653118
NM_021830.4:c.793C>T