Canonical Allele Identifier: PA2825963802
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 426104
ClinVar RCV Id: RCV000508722
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157284.1:p.Gln458His
CA378210724
NM_001163812.2:c.1374G>C
CA378210725
NM_001163812.2:c.1374G>T