ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916047251
Gene: TWNK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355204.1:p.Val53Ile
CA174965
NM_001368275.1:c.157G>A