Canonical Allele Identifier: PA2579801090
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val425Thr
CA2579803026
NM_000071.3:c.1273_1275delinsACT
CA2579803028
NM_000071.3:c.1273_1274delinsAC