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: PA2580189318

Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2276189

ClinVar RCV Id: RCV002826934

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269607.1:p.Thr981Lys	CA368161433 NM_001282678.2:c.2942C>A