ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825963624
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1441023
ClinVar RCV Id:
RCV001967815
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157284.1:p.Ala201Val
CA5653091
NM_001163812.2:c.602C>T