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: PA2826623707

Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 8431

ClinVar RCV Id: RCV000008945 RCV000008946 RCV000032119 RCV000194789 RCV000197572 RCV000224441 RCV001027473 RCV001507314

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268385.1:p.Thr118Met	CA119616 NM_001281456.2:c.353C>T