ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA176118
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000150707
RCV000246481
RCV000303596
RCV000338830
RCV000358510
RCV000363432
RCV000391019
RCV000391023
RCV000588579
RCV001084497
ClinVar Variation:
163486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Ala27Thr
CA017499
NM_000138.5:c.79G>A