ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA280243
Gene: MEFV
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000030169
RCV000366739
RCV001001441
RCV002262577
RCV003466877
ClinVar Variation:
36497
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Ser339Phe
CA280241
NM_000243.3:c.1016C>T