ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA353662
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222607
ClinVar RCV Id:
RCV000208355
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Ser1936Gly
CA353660
NM_000138.5:c.5806A>G