Canonical Allele Identifier: PA2579798290
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln295Ala
CA2579810777
NM_000071.3:c.883_885delinsGCT
CA2579810778
NM_000071.3:c.883_884delinsGC