ClinGen Allele Registry
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Canonical Allele Identifier:
PA116966
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4623
ClinVar RCV Id:
RCV000004886
RCV000508769
RCV001093424
RCV001542762
RCV002288465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068602.2:p.Arg334Gln
CA116965
NM_021830.4:c.1001G>A