Canonical Allele Identifier: PA2579795564
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile166Asn
CA410601390
NM_000071.3:c.497T>A
CA2579808538
NM_000071.3:c.497_498delinsAT