ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828325219
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
515481
ClinVar RCV Id:
RCV000610375
RCV000691182
RCV002528655
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356320.1:p.Pro106Arg
CA10558583
NM_001369391.2:c.317C>G