ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825963761
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214185
ClinVar RCV Id:
RCV000578276
RCV001105893
RCV001105895
RCV001722090
RCV001105894
RCV002515383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157284.1:p.Asn399Ser
CA324207
NM_001163812.2:c.1196A>G