Canonical Allele Identifier: PA2579795723
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser174Val
CA2579804736
NM_000071.3:c.520_522delinsGTT
CA2579804737
NM_000071.3:c.520_522delinsGTG
CA2579804738
NM_000071.3:c.520_521delinsGT