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: PA2828938870

Gene: FBLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2644461

ClinVar RCV Id: RCV003393562

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001371091.1:p.Arg303Cys	CA7312623 NM_001384162.1:c.907C>T