ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825963835
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1344248
ClinVar RCV Id:
RCV001848351
RCV002034753
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157284.1:p.His489Arg
CA5653232
NM_001163812.2:c.1466A>G