Canonical Allele Identifier: PA2827070499
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Arg231Ser
CA410599800
NM_001321072.1:c.691C>A
CA2579812114
NM_001321072.1:c.691_693delinsTCT
CA2579812115
NM_001321072.1:c.691_693delinsAGT