ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825963836
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2012569
ClinVar RCV Id:
RCV002843214
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157284.1:p.His489Tyr
CA378210970
NM_001163812.2:c.1465C>T