Canonical Allele Identifier: PA916024397
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Leu251Pro
CA410600363
NM_001320298.2:c.752T>C
CA2579807628
NM_001320298.2:c.752_753delinsCT