ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828287908
Gene: TWNK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355204.1:p.Ser199Phe
CA5653373
NM_001368275.1:c.596C>T