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: PA2573314446

Gene: GABRG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1685837

ClinVar RCV Id: RCV002250004

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_944493.2:p.Thr350Ser	CA362182305 NM_198903.2:c.1048A>T CA362182310 NM_198903.2:c.1049C>G