Canonical Allele Identifier: PA2579796118
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser19Gln
CA2579804656
NM_000071.3:c.55_56delinsCA
CA2579813462
NM_000071.3:c.55_57delinsCAG