ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA322516
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000198041
RCV000471326
RCV003401068
ClinVar Variation:
213420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Met2200Val
CA322515
NM_001999.4:c.6598A>G