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: PA645405992

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418200

ClinVar RCV Id: RCV000487361 RCV002245990

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly2140Glu	CA16619944 NM_000138.5:c.6419G>A