ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828147262
Gene: MEF2C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538815
ClinVar RCV Id:
RCV000648311
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351286.1:p.Ala234Val
CA3337185
NM_001364357.2:c.701C>T