Canonical Allele Identifier: PA2579792008
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp494Arg
CA2579811207
NM_000071.3:c.1480_1482delinsCGT
CA2579811208
NM_000071.3:c.1480_1482delinsAGG