ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825963803
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2125199
ClinVar RCV Id:
RCV003039995
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157284.1:p.Phe459Cys
CA378210730
NM_001163812.2:c.1376T>G