ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA148321
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95198
ClinVar RCV Id:
RCV000081206
RCV000232718
RCV001507027
RCV001079342
RCV002316245
RCV004542785
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Thr215Met
CA148319
NM_001110792.2:c.644C>T