ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828326844
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444834
ClinVar RCV Id:
RCV000512893
RCV000991004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356322.1:p.Asp58Tyr
CA415174739
NM_001369393.2:c.172G>T