ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139742073
Gene: TWNK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355204.1:p.Ala79Thr
CA5653292
NM_001368275.1:c.235G>A