Canonical Allele Identifier: PA2826133619
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Arg317Gly
CA321091261
NM_001178009.3:c.949A>G
CA2579812998
NM_001178009.3:c.949_951delinsGGT