ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658670563
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458756
ClinVar RCV Id:
RCV000536277
RCV001591205
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Lys1097Thr
CA3395275
NM_001999.4:c.3290A>C