ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645411265
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426102
ClinVar RCV Id:
RCV000508711
RCV000497430
RCV001332412
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068602.2:p.Pro335Thr
CA378209644
NM_021830.4:c.1003C>A