Canonical Allele Identifier: PA2826956348
Gene: MECP2 HGNC NCBI
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001303266.1:p.Pro376Leu
CA415163451
NM_001316337.2:c.1127C>T