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: PA2825057949

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1717938

ClinVar RCV Id: RCV002299501

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Phe1026Leu	CA392328864 NM_000138.5:c.3078C>G CA392328867 NM_000138.5:c.3078C>A CA392328876 NM_000138.5:c.3076T>C