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: PA2826953867

Gene: PEX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 197656

ClinVar RCV Id: RCV000178750 RCV001852222

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001303242.1:p.Leu350Pro	CA245912 NM_001316313.2:c.1049T>C