Canonical Allele Identifier: PA2579792252
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Met505Phe
CA2579806315
NM_000071.3:c.1513_1515delinsTTT
CA2579806316
NM_000071.3:c.1513_1515delinsTTC