ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826180122
Gene: MEF2C
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000656084
ClinVar Variation:
438583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180278.1:p.Ser239Leu
CA3337223
NM_001193349.2:c.716C>T