Canonical Allele Identifier: PA2579792427
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.His513Ile
CA2579809101
NM_000071.3:c.1537_1539delinsATT
CA2579809102
NM_000071.3:c.1537_1538delinsAT