ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA170347
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143638
ClinVar RCV Id:
RCV000133178
RCV000457783
RCV001711300
RCV002472327
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Gly206Ala
CA170346
NM_004992.4:c.617G>C