Canonical Allele Identifier: PA2579794685
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro2Phe
CA2579805285
NM_000071.3:c.4_5delinsTT
CA2579805286
NM_000071.3:c.4_6delinsTTC