ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825963691
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
880052
ClinVar RCV Id:
RCV001108046
RCV001108047
RCV001108049
RCV001108048
RCV003688899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157284.1:p.Val305Ile
CA212963101
NM_001163812.2:c.913G>A