Canonical Allele Identifier: PA2573201470
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Ala53Val
CA410601473
NM_001321072.1:c.158C>T
CA2579813165
NM_001321072.1:c.158_159delinsTC