ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828327580
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
36492
ClinVar RCV Id:
RCV000030164
RCV000194612
RCV000724867
RCV001057144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356322.1:p.Val388Met
CA208886
NM_001369393.2:c.1162G>A