ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826956307
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
45153
ClinVar RCV:
RCV000170261
RCV000415982
RCV000438624
RCV001079728
RCV001251833
RCV002381273
RCV002472321
RCV004541028
ClinVar Variation:
36491
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303266.1:p.Ala350Thr
CA199489
NM_001316337.2:c.1048G>A