ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA101669
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
526
ClinVar RCV Id:
RCV000000555
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Cys1142Phe
CA281517
NM_001999.4:c.3425G>T