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: PA916055023

Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 8442

ClinVar RCV Id: RCV000008955

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_696997.1:p.Asp37Val	CA119626 NM_153322.3:c.110A>T