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: PA2829068815

Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 95187

ClinVar RCV Id: RCV000081194 RCV000202529 RCV000224642 RCV001081987 RCV000716944 RCV002498425

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001373066.1:p.Glu174Lys	CA211306 NM_001386137.1:c.520G>A