Canonical Allele Identifier: PA2579791932
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile490Gly
CA2579807976
NM_000071.3:c.1468_1470delinsGGG
CA2579807977
NM_000071.3:c.1468_1470delinsGGT