ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA320192
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213360
ClinVar RCV Id:
RCV000195816
RCV002517178
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Asn2467Ser
CA320191
NM_001999.4:c.7400A>G