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: PA304246

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200094

ClinVar RCV Id: RCV000181580

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asp2291Asn	CA016793 NM_000138.5:c.6871G>A