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: PA645490657

Gene: PLP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 405941

ClinVar RCV Id: RCV000463096 RCV000681649 RCV003313955

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001122306.1:p.Ile47Thr	CA16616406 NM_001128834.3:c.140T>C