Canonical Allele Identifier: PA2579792278
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp506Cys
CA2579811180
NM_000071.3:c.1516_1517delinsTG
CA2579811181
NM_000071.3:c.1516_1518delinsTGT