ClinGen Allele Registry
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Canonical Allele Identifier:
PA916047745
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000133082
RCV000133083
RCV001383621
ClinVar Variation:
143549
143550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356323.1:p.Leu31Phe
CA270369
NM_001369394.2:c.93G>C
CA270371
NM_001369394.2:c.93G>T