ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828325459
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143754
ClinVar RCV Id:
RCV000133300
RCV000414666
RCV001849960
RCV003883134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356320.1:p.Pro229Leu
CA270591
NM_001369391.2:c.686C>T