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: PA2828327161

Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 375525

ClinVar RCV Id: RCV000416950

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356322.1:p.Lys212Asn	CA16044336 NM_001369393.2:c.636G>T CA415169010 NM_001369393.2:c.636G>C