ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499229953
Gene: MEFV
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001294949
ClinVar Variation:
999011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Ala744Pro
CA394485093
NM_000243.3:c.2230G>C