Canonical Allele Identifier: PA2579800855
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val414Ile
CA410397410
NM_000071.3:c.1240G>A
CA2579813351
NM_000071.3:c.1240_1242delinsATA