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: PA2573216457

Gene: FBLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1348975

ClinVar RCV Id: RCV002035092

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001371087.1:p.Val402Ile	CA7312621 NM_001384158.1:c.1204G>A