Canonical Allele Identifier: PA2579792130
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu499Pro
CA410395779
NM_000071.3:c.1496T>C
CA2579807081
NM_000071.3:c.1496_1497delinsCA