Canonical Allele Identifier: PA2579794035
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val10Ala
CA410602587
NM_000071.3:c.29T>C
CA2579803379
NM_000071.3:c.29_30delinsCT