ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580257235
Gene: CAT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004219751
ClinVar Variation:
2384890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001743.1:p.His466Pro
CA5944630
NM_001752.3:c.1397A>C