ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645464633
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000765802
RCV000810490
RCV002310870
ClinVar Variation:
263857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Ile574Val
CA3395739
NM_001999.4:c.1720A>G