Allele Registry

Canonical Allele Identifier: PA645417827

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000278510

RCV000335941

RCV000405289

RCV000756700

ClinVar Variation:

293001

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Thr1054Ser	CA1183157 NM_003126.2:c.3160A>T CA343037925 NM_003126.2:c.3161C>G