ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828491700
Gene: CHN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2574198
ClinVar RCV Id:
RCV003318780
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358442.1:p.Asp238Tyr
CA349347649
NM_001371513.1:c.712G>T