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: PA915967979

Gene: GABRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205526

ClinVar RCV Id: RCV000187505

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121120.1:p.Ser297Arg	CA314682 NM_001127648.2:c.891C>G CA362180129 NM_001127648.2:c.889A>C CA362180135 NM_001127648.2:c.891C>A