Canonical Allele Identifier: PA2825963656
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 2442593
ClinVar RCV Id: RCV003149365
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157284.1:p.Pro251Leu
CA378208363
NM_001163812.2:c.752C>T