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: PA2828938718

Gene: FBLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 218359

ClinVar RCV Id: RCV000202614 RCV000521928 RCV001249315 RCV001121879 RCV001843303 RCV003447125

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001371091.1:p.Gly34Ser	CA213355 NM_001384162.1:c.100G>A