Canonical Allele Identifier: PA2579801452
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr5Ile
CA410602617
NM_000071.3:c.14C>T
CA2579803650
NM_000071.3:c.14_15delinsTT