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: PA2828938676

Gene: FBLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 417872

ClinVar RCV Id: RCV000477790 RCV002525743

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001371090.1:p.Arg339Trp	CA7312607 NM_001384161.1:c.1015C>T