ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825963806
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444235
ClinVar RCV Id:
RCV000513096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157284.1:p.Glu461Lys
CA5653219
NM_001163812.2:c.1381G>A