Canonical Allele Identifier: PA1139674184
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 919912
ClinVar RCV Id: RCV001178380 RCV003769926
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser1202Ile
CA051311
NM_000138.5:c.3605G>T
CA913188649
NM_000138.5:c.3605_3606delinsTT