Canonical Allele Identifier: PA645403635
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 316393
ClinVar RCV Id: RCV000265294 RCV000300622 RCV000320428 RCV000355433 RCV000360782 RCV000354296 RCV000402469 RCV003765837
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro75Ser
CA10642094
NM_000138.5:c.223C>T