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: PA2828326419

Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 393486

ClinVar RCV Id: RCV000445564

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001356321.1:p.Glu272_Pro286del