ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829069129
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143738
ClinVar RCV Id:
RCV000133281
RCV000413239
RCV000754784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373067.1:p.Pro79Leu
CA270574
NM_001386138.1:c.236C>T