ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825963954
Gene: TWNK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157285.1:p.Ala117Val
CA5653312
NM_001163813.2:c.350C>T