Allele Registry

Canonical Allele Identifier: PA2827043748

Gene: CHCHD2 HGNC NCBI

ClinVar RCV:

RCV000203222

RCV003556255

ClinVar Variation:

218883

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307256.1:p.Arg145Gln	CA214827 NM_001320327.2:c.434G>A