Canonical Allele Identifier: PA2579798001
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp281Thr
CA2579811361
NM_000071.3:c.841_842delinsAC
CA2579811362
NM_000071.3:c.841_843delinsACG