Canonical Allele Identifier: PA170314
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143607
ClinVar RCV Id: RCV000133147 RCV002055854 RCV002336286 RCV003990988 RCV004532603
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004983.1:p.Pro172Leu
CA170313
NM_004992.4:c.515C>T