Allele Registry

Canonical Allele Identifier: PA645417918

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000291374

RCV000340503

RCV000383387

RCV002519402

ClinVar Variation:

292991

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Val1233Ile	CA1182969 NM_003126.2:c.3697G>A