Canonical Allele Identifier: PA2579801239
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly432Phe
CA2579809605
NM_000071.3:c.1294_1296delinsTTC
CA2579809608
NM_000071.3:c.1294_1296delinsTTT