Canonical Allele Identifier: PA2579800810
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu412Phe
CA410397427
NM_000071.3:c.1234C>T
CA2579807771
NM_000071.3:c.1234_1236delinsTTT