ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580430427
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1804823
ClinVar RCV Id:
RCV002470120
RCV003775506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068602.2:p.Ser194Asn
CA378207726
NM_021830.4:c.581G>A