Canonical Allele Identifier: PA185972
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42355
ClinVar RCV Id: RCV000035194 RCV000161118 RCV000226865 RCV000586163 RCV000755199 RCV000765222 RCV000771903 RCV001121321 RCV001121322 RCV001121323 RCV001121324 RCV001116398
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro1424Ala
CA014918
NM_000138.5:c.4270C>G