ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891850948
Gene: CA5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001730.1:p.Leu186Phe
CA8223394
NM_001739.2:c.556C>T