ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA170405
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000030167
RCV000133285
ClinVar Variation:
36495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Ile315Met
CA170403
NM_001110792.2:c.945C>G