Canonical Allele Identifier: PA1139696292
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Val314Ala
CA410599956
NM_001320298.2:c.941T>C
CA2579803201
NM_001320298.2:c.941_942delinsCT