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: PA255697

Gene: PLP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11082

ClinVar RCV Id: RCV000011831

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001122306.1:p.Gly74Arg	CA255696 NM_001128834.3:c.220G>A CA414102460 NM_001128834.3:c.220G>C