Canonical Allele Identifier: PA2827070319
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Ile173Ser
CA410600182
NM_001321072.1:c.518T>G
CA2579808227
NM_001321072.1:c.517_518delinsTC
CA2579808228
NM_001321072.1:c.517_519delinsTCG