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: PA2826326146

Gene: ACSF3 HGNC NCBI

Linked Data

ClinVar Variation Id: 31140

ClinVar RCV Id: RCV000024136 RCV003114202

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230208.1:p.Pro243Leu	CA129715 NM_001243279.3:c.728C>T