Allele Registry

Canonical Allele Identifier: PA2826372474

Gene: CHIT1 HGNC NCBI

ClinVar Allele:

447562

ClinVar RCV:

RCV000675721

RCV001030825

ClinVar Variation:

472285

HGVS (amino-acid)	Matching Registered Transcripts
NP_001243054.2:p.Gly335Arg	CA1339681 NM_001256125.2:c.1003G>A CA344308522 NM_001256125.2:c.1003G>C