Allele Registry

Canonical Allele Identifier: PA645418116

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000296895

RCV000338302

RCV000402406

RCV000903571

ClinVar Variation:

292943

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Asp2284Asn	CA1181797 NM_003126.2:c.6850G>A