ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580292264
Gene: CHIT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2143534
ClinVar RCV Id:
RCV003062734
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003456.1:p.Pro376Ser
CA1339657
NM_003465.3:c.1126C>T