ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826956175
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143393
ClinVar RCV Id:
RCV000169943
RCV000726321
RCV001078768
RCV001257761
RCV002515928
RCV004544307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303266.1:p.Pro295Ser
CA274535
NM_001316337.2:c.883C>T