Canonical Allele Identifier: PA2579791969
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu492Ile
CA410395892
NM_000071.3:c.1474C>A
CA2579807125
NM_000071.3:c.1474_1476delinsATT