Canonical Allele Identifier: PA2579792014
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp494Leu
CA2579811197
NM_000071.3:c.1480_1482delinsTTG
CA2579811198
NM_000071.3:c.1480_1482delinsCTT