Canonical Allele Identifier: PA2579794260
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu104Ser
CA2579810838
NM_000071.3:c.310_311delinsTC
CA2579810840
NM_000071.3:c.310_312delinsTCT