Canonical Allele Identifier: PA2579801130
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro427Arg
CA410397246
NM_000071.3:c.1280C>G
CA2579805645
NM_000071.3:c.1280_1281delinsGT
CA2579805646
NM_000071.3:c.1279_1280delinsAG