Canonical Allele Identifier: PA645406485
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418202
ClinVar RCV Id: RCV000483455 RCV000765218 RCV000697974 RCV001180112 RCV004002242
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro2676Leu
CA059470
NM_000138.5:c.8027C>T