Canonical Allele Identifier: PA2579792116
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu499Val
CA410395788
NM_000071.3:c.1495C>G
CA2579807078
NM_000071.3:c.1495_1497delinsGTT