Allele Registry

Canonical Allele Identifier: PA658665501

Gene: CHIT1 HGNC NCBI

ClinVar Allele:

447562

ClinVar RCV:

RCV000675721

RCV001030825

ClinVar Variation:

472285

HGVS (amino-acid)	Matching Registered Transcripts
NP_003456.1:p.Gly354Arg	CA1339681 NM_003465.3:c.1060G>A CA344308522 NM_003465.3:c.1060G>C