ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580145283
Gene: COASY
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035997.2:p.Lys400Arg
CA8578204
NM_001042532.4:c.1199A>G