ClinGen Allele Registry
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Canonical Allele Identifier:
PA270203
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
153072
ClinVar RCV:
RCV000132865
RCV001245011
RCV001546726
RCV002515927
RCV004528866
ClinVar Variation:
143340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Ala378Gly
CA270202
NM_004992.4:c.1133C>G