Allele Registry

Canonical Allele Identifier: PA108814

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000013714

RCV000013715

RCV001509084

ClinVar Variation:

12857

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Leu207Pro	CA122760 NM_003126.2:c.620T>C