ClinGen Allele Registry
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Canonical Allele Identifier:
PA172569
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158883
ClinVar RCV Id:
RCV000146355
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Glu169Gly
CA172568
NM_004992.4:c.506A>G