Canonical Allele Identifier: PA2579798358
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln298Ala
CA2579810744
NM_000071.3:c.892_893delinsGC
CA2579810745
NM_000071.3:c.892_894delinsGCT