Allele Registry

Canonical Allele Identifier: PA2499268478

Gene: SREBF2 HGNC NCBI

ClinVar RCV:

RCV001708207

ClinVar Variation:

1285913

HGVS (amino-acid)	Matching Registered Transcripts
NP_004590.2:p.Gly595Ala	CA10261760 NM_004599.4:c.1784G>C