Canonical Allele Identifier: PA2827070454
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Arg212Gly
CA321091261
NM_001321072.1:c.634A>G
CA2579812998
NM_001321072.1:c.634_636delinsGGT