ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826372485
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_001243054.2:p.Pro357Ser
CA1339657
NM_001256125.2:c.1069C>T