ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA294714
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
156668
ClinVar RCV Id:
RCV000144811
RCV003227673
RCV002055866
RCV004532633
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Ala202Val
CA294713
NM_004992.4:c.605C>T