Allele Registry

Canonical Allele Identifier: PA645417923

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000283192

RCV000324353

RCV000378980

RCV002261033

RCV004021365

ClinVar Variation:

292990

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Arg1277Cys	CA1182923 NM_003126.2:c.3829C>T