Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2825059645

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1709063

ClinVar RCV Id: RCV002288347

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Glu2260Lys	CA057401 NM_000138.5:c.6778G>A