ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA120507
Gene: CHIT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003456.1:p.Glu74Lys
CA120506
NM_003465.3:c.220G>A