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: PA645405769

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263883

ClinVar RCV Id: RCV001525147 RCV001854976 RCV003995697 RCV002487144

ClinVar Variation Id: 3074223

ClinVar RCV Id: RCV004012765

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asn1926del	CA10587812 NM_000138.5:c.5776_5778del CA2825002263 NM_000138.5:c.5775_5777del