Canonical Allele Identifier: PA2579792059
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu496Gly
CA2579807103
NM_000071.3:c.1486_1487delinsGG
CA2579807104
NM_000071.3:c.1486_1488delinsGGT