Allele Registry

Canonical Allele Identifier: PA108834

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000013705

RCV001004905

ClinVar Variation:

12851

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Leu49Phe	CA122754 NM_003126.2:c.145C>T