Allele Registry

Canonical Allele Identifier: PA2826372407

Gene: CHIT1 HGNC NCBI

ClinVar RCV:

RCV000010133

ClinVar Variation:

9525

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243054.2:p.Glu74Lys	CA120506 NM_001256125.2:c.220G>A