ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645403635
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000265294
RCV000300622
RCV000320428
RCV000354296
RCV000355433
RCV000360782
RCV000402469
RCV003765837
ClinVar Variation:
316393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Pro75Ser
CA10642094
NM_000138.5:c.223C>T