Allele Registry

Canonical Allele Identifier: PA658805454

Gene: CHMP1A HGNC NCBI

ClinVar RCV:

RCV000626145

ClinVar Variation:

522948

HGVS (amino-acid)	Matching Registered Transcripts
NP_002759.2:p.Glu116Lys	CA397433083 NM_002768.5:c.346G>A