ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741873646
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2683876
ClinVar RCV Id:
RCV003484485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355204.1:p.Arg9Gln
CA5653220
NM_001368275.1:c.26G>A