Canonical Allele Identifier: PA2499248549
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Asp15Gly
CA410601870
NM_001321072.1:c.44A>G
CA2579813846
NM_001321072.1:c.44_45delinsGT