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: PA2825120143

Gene: PEX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2048343

ClinVar RCV Id: RCV002918701 RCV003331399 RCV002931826

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000309.2:p.Ile211Thr	CA4788676 NM_000318.3:c.632T>C