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: PA915984796

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_001245298.1:p.Phe773Leu	CA6996413 NM_001258369.2:c.2317T>C CA388330878 NM_001258369.2:c.2319C>G CA388330879 NM_001258369.2:c.2319C>A