ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829068770
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143383
ClinVar RCV Id:
RCV000132908
RCV000224689
RCV000608016
RCV001087050
RCV002371977
RCV001800445
RCV002498651
RCV004532592
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373066.1:p.Pro164Leu
CA170185
NM_001386137.1:c.491C>T