ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA170315
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143607
ClinVar RCV Id:
RCV000133147
RCV002055854
RCV002336286
RCV003990988
RCV004532603
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104262.1:p.Pro184Leu
CA170313
NM_001110792.2:c.551C>T