ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825963591
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2498468
ClinVar RCV Id:
RCV003222677
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157284.1:p.Glu138Ala
CA378207316
NM_001163812.2:c.413A>C