ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830032391
Gene: COASY
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079509.5:p.Ile374Val
CA8578205
NM_025233.7:c.1120A>G