ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828287835
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1938311
ClinVar RCV Id:
RCV002646282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355204.1:p.Phe34Ser
CA378210964
NM_001368275.1:c.101T>C