Canonical Allele Identifier: PA658691791
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495607
ClinVar RCV Id: RCV000587537 RCV000810940 RCV001117738 RCV001117739 RCV001117740 RCV001119296 RCV001119298 RCV001117741 RCV001119297
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1441Arg
CA052488
NM_000138.5:c.4321G>A
CA392317561
NM_000138.5:c.4321G>C