ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096186
Gene: COASY
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000087062
RCV001588921
RCV002298471
ClinVar Variation:
100662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035994.1:p.Arg499Cys
CA150599
NM_001042529.3:c.1495C>T