ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826133389
Gene: CBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171480.1:p.Glu144Gln
CA321097472
NM_001178009.3:c.430G>C