ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825964031
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
279716
ClinVar RCV Id:
RCV000278667
RCV000312773
RCV000352301
RCV000406261
RCV001722382
RCV001848044
RCV004021053
RCV001336025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157285.1:p.Lys230Gln
CA5653396
NM_001163813.2:c.688A>C