ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645411251
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225838
ClinVar RCV Id:
RCV000239858
RCV003317155
RCV001762457
RCV003989505
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068602.2:p.Arg302Trp
CA5653134
NM_021830.4:c.904C>T