Allele Registry

Canonical Allele Identifier: PA272568

Gene: SMC1A HGNC NCBI

ClinVar RCV:

RCV000147564

RCV000255003

RCV003883136

ClinVar Variation:

159954

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268392.1:p.Arg1027Gln	CA272565 NM_001281463.1:c.3080G>A