Allele Registry

Canonical Allele Identifier: PA108789

Gene: SPTA1 HGNC NCBI

ClinVar RCV:

RCV000013704

ClinVar Variation:

12850

HGVS (amino-acid)	Matching Registered Transcripts
NP_003117.2:p.Gly46Val	CA122753 NM_003126.2:c.137G>T