ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573078724
Gene: MECP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
386725
ClinVar RCV Id:
RCV000431253
RCV000873957
RCV001519911
RCV003448307
RCV003168669
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373068.1:p.Ala58Thr
CA10558543
NM_001386139.1:c.172G>A