ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825963712
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2854420
ClinVar RCV Id:
RCV003688646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157284.1:p.Gln338Glu
CA378209664
NM_001163812.2:c.1012C>G