ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825963731
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4618
ClinVar RCV Id:
RCV000004881
RCV000508874
RCV002512779
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157284.1:p.Ala359Thr
CA116959
NM_001163812.2:c.1075G>A