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: PA2580116401

Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1919845

ClinVar RCV Id: RCV002603985

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000457.1:p.Thr643Asn	CA4341251 NM_000466.3:c.1928C>A