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: PA320256

Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213417

ClinVar RCV Id: RCV000195870 RCV001493386 RCV002354549

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Gly2025Ser	CA320255 NM_001999.4:c.6073G>A