Allele Registry

Canonical Allele Identifier: PA645418065

Gene: SPTA1 HGNC NCBI

ClinVar Allele:

249434

ClinVar RCV:

RCV000247499

RCV000304497

RCV000361633

RCV000395775

RCV001003794

RCV001731550

ClinVar Variation:

258948

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Leu1858Val	CA1182251 NM_003126.2:c.5572C>G