ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829909019
Gene: BRIX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060791.3:p.Pro200Ser
CA3228176
NM_018321.4:c.598C>T