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Canonical Allele Identifier: Get Identifier
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Leu426Val
CA410397269
NM_001320298.2:c.1276C>G
CA2579807257
NM_001320298.2:c.1276_1278delinsGTT
CA2579807258
NM_001320298.2:c.1276_1278delinsGTA
CA2579807260
NM_001320298.2:c.1276_1278delinsGTG