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: PA172572

Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143657

ClinVar RCV Id: RCV000146356 RCV000535349 RCV000715147 RCV001705937 RCV003990995 RCV004532610

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004983.1:p.Thr228Ser	CA172571 NM_004992.4:c.683C>G CA415172595 NM_004992.4:c.682A>T