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: PA2826469538

Gene: DIAPH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 508708

ClinVar RCV Id: RCV000963712 RCV003927976

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245296.1:p.Phe727Leu	CA6996413 NM_001258367.2:c.2179T>C CA388330878 NM_001258367.2:c.2181C>G CA388330879 NM_001258367.2:c.2181C>A