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: PA2499254412

Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1166038

ClinVar RCV Id: RCV001513735 RCV001724326

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356323.1:p.Thr91Ser	CA10558593 NM_001369394.2:c.272C>G CA415173706 NM_001369394.2:c.271A>T