ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828170123
Gene: MEF2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
403080
ClinVar RCV Id:
RCV000455204
RCV003972724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352133.1:p.Gln429_Gln430del
CA7755653
NM_001365204.3:c.1286_1291del