Canonical Allele Identifier: PA2579792321
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Phe508Cys
CA410395667
NM_000071.3:c.1523T>G
CA2579805576
NM_000071.3:c.1523_1524delinsGT