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: PA2828325117

Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 11844

ClinVar RCV Id: RCV000012618 RCV000133115 RCV000492792 RCV000991003 RCV000763200 RCV001246099

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Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001356320.1:p.Pro59Ala