Canonical Allele Identifier: PA2579792489
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000062.1:p.Ile516Leu
NM_000071.3:c.1546A>C

NM_000071.3:c.1546_1548delinsCTT

NM_000071.3:c.1546_1548delinsTTA

NM_000071.3:c.1546_1548delinsTTG