Canonical Allele Identifier: PA2827070623
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Lys279Asn
CA410397846
NM_001321072.1:c.837G>T
CA410397847
NM_001321072.1:c.837G>C