Allele Registry

Canonical Allele Identifier: PA645500377

Gene: SI HGNC NCBI

ClinVar RCV:

RCV000394925

RCV001522010

RCV001528889

ClinVar Variation:

344010

HGVS (amino-acid)	Matching Registered Transcripts
NP_001032.2:p.Met1523Ile	CA2689874 NM_001041.4:c.4569G>A CA355029963 NM_001041.4:c.4569G>T CA355029965 NM_001041.4:c.4569G>C