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: PA1139713223

Gene: PEX13 HGNC NCBI

Linked Data

ClinVar Variation Id: 940895

ClinVar RCV Id: RCV001210573

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002609.1:p.Arg202Lys	CA346944015 NM_002618.4:c.605G>A