Canonical Allele Identifier: PA2741863189
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Gly305Arg
CA410600016
NM_001320298.2:c.913G>C
CA410600017
NM_001320298.2:c.913G>A
CA2579813691
NM_001320298.2:c.913_915delinsCGT