Allele Registry

Canonical Allele Identifier: PA242194

Gene: FLNA HGNC NCBI

ClinVar RCV:

RCV000723973

RCV002517695

ClinVar Variation:

195671

HGVS (amino-acid)	Matching Registered Transcripts
NP_001447.2:p.Asp1116Glu	CA242192 NM_001456.4:c.3348C>A CA415228388 NM_001456.4:c.3348C>G