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: PA2827744677

Gene: ARHGEF9 HGNC NCBI

Linked Data

ClinVar Variation Id: 225050

ClinVar RCV Id: RCV000210722 RCV001040965 RCV001786341

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340850.1:p.Arg345Trp	CA358247 NM_001353921.2:c.1033C>T