ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826372407
Gene: CHIT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243054.2:p.Glu74Lys
CA120506
NM_001256125.2:c.220G>A