Allele Registry

Canonical Allele Identifier: PA246514

Gene: SGCA HGNC NCBI

ClinVar RCV:

RCV000648057

RCV000723501

ClinVar Variation:

198031

HGVS (amino-acid)	Matching Registered Transcripts
NP_000014.1:p.Asp234Asn	CA246512 NM_000023.3:c.700G>A