ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270460
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143608
ClinVar RCV Id:
RCV000133148
RCV000513430
RCV000766084
RCV002055855
RCV004532604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Pro185Ala
CA270458
NM_001110792.2:c.553C>G