ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825963905
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1191969
ClinVar RCV Id:
RCV001553253
RCV002509686
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157285.1:p.Arg23Cys
CA5653228
NM_001163813.2:c.67C>T