Canonical Allele Identifier: PA2579794491
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro12Arg
CA410602576
NM_000071.3:c.35C>G
CA2579805979
NM_000071.3:c.35_36delinsGT