Canonical Allele Identifier: PA131185
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42348
ClinVar RCV Id: RCV000035187 RCV001343735 RCV003528139 RCV003996188
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1369Ser
CA014768
NM_000138.5:c.4106A>G