ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109133
Gene: TWNK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_068602.2:p.Tyr508Cys
NM_021830.4:c.1523A>G