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: PA2580116404

Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2171658

ClinVar RCV Id: RCV003088915

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000457.1:p.Ser649Leu	CA368183888 NM_000466.3:c.1946C>T