Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA645466269

Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 432962

ClinVar RCV Id: RCV000498484 RCV001851387

ClinVar Variation Id: 2576918

ClinVar RCV Id: RCV003323223

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000465.1:p.Ser94_Ser99del	CA4174514 NM_000474.4:c.276_293del CA573294103 NM_000474.4:c.279_296del CA2580615856 NM_000474.4:c.280_297del