ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826133658
Gene: CBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171480.1:p.Gly347Ser
CA273978
NM_001178009.3:c.1039G>A