ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580112133
Gene: MEFV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2169785
ClinVar RCV Id:
RCV003085007
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000234.1:p.Pro115Ser
CA7860453
NM_000243.3:c.343C>T