ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829565766
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1009081
ClinVar RCV Id:
RCV001306521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Ala446Val
CA10558438
NM_004992.4:c.1337C>T