ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828325167
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1312548
ClinVar RCV Id:
RCV001761436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356320.1:p.Lys81Thr
CA415173936
NM_001369391.2:c.242A>C