Canonical Allele Identifier: PA2579800794
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.His411Lys
CA2579808732
NM_000071.3:c.1231_1233delinsAAA
CA2579808733
NM_000071.3:c.1231_1233delinsAAG