Canonical Allele Identifier: PA2580206338
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Arg317Gly
CA321091261
NM_001320298.2:c.949A>G
CA2579812998
NM_001320298.2:c.949_951delinsGGT