ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580430469
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2097675
ClinVar RCV Id:
RCV003028517
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068602.2:p.Met486Val
CA378210947
NM_021830.4:c.1456A>G