ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA101844
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2136329
ClinVar RCV Id:
RCV003037119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Gly1179Cys
CA360759363
NM_001999.4:c.3535G>T