Canonical Allele Identifier: PA2579801214
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Cys431Ala
CA2579811380
NM_000071.3:c.1291_1293delinsGCG
CA2579811382
NM_000071.3:c.1291_1292delinsGC