ClinGen Allele Registry
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Canonical Allele Identifier:
PA121718
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11844
ClinVar RCV Id:
RCV000012618
RCV000133115
RCV000492792
RCV000991003
RCV000763200
RCV001246099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004983.1:p.Pro152Ala
CA121717
NM_004992.4:c.454C>G