ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825963938
Gene: TWNK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157285.1:p.Tyr83His
CA5653294
NM_001163813.2:c.247T>C