ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828142126
Gene: MEF2C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1015461
ClinVar RCV Id:
RCV001314325
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351265.1:p.Leu258His
CA360423227
NM_001364336.2:c.773T>A