Canonical Allele Identifier: PA2579796541
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn212Glu
CA2579812294
NM_000071.3:c.634_636delinsGAA
CA2579812295
NM_000071.3:c.634_636delinsGAG