Canonical Allele Identifier: PA2827070214
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Leu125Gln
CA410600601
NM_001321072.1:c.374T>A
CA2579813609
NM_001321072.1:c.374_375delinsAA