ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA208801
Gene: MEF2C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
211493
ClinVar RCV Id:
RCV000194560
RCV000725072
RCV002056996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124477.1:p.Thr393Ala
CA208800
NM_001131005.2:c.1177A>G