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: PA916047739

Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143541

ClinVar RCV Id: RCV000133074 RCV000715718 RCV001800452 RCV002514765

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356323.1:p.Arg22Cys	CA294544 NM_001369394.2:c.64C>T