ClinGen Allele Registry
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Canonical Allele Identifier:
PA170199
Gene: MECP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000132947
RCV000445563
RCV001512332
RCV004532594
ClinVar Variation:
143421
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Glu406Lys
CA170197
NM_001110792.2:c.1216G>A