Canonical Allele Identifier: PA2579793959
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Met89Asn
CA2579806275
NM_000071.3:c.266_267delinsAT
CA2579806277
NM_000071.3:c.266_267delinsAC