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: PA2826226713

Gene: ACY1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18110

ClinVar RCV Id: RCV000019738 RCV000514755 RCV004017259 RCV002222357 RCV002514118

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001185826.1:p.Arg288Cys	CA127826 NM_001198897.2:c.862C>T