ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580430429
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1897017
ClinVar RCV Id:
RCV002576181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068602.2:p.Ala201Pro
CA378207775
NM_021830.4:c.601G>C