Canonical Allele Identifier: PA2579792489
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile516Leu
CA410395541
NM_000071.3:c.1546A>C
CA2579808413
NM_000071.3:c.1546_1548delinsTTA
CA2579808414
NM_000071.3:c.1546_1548delinsCTT
CA2579808415
NM_000071.3:c.1546_1548delinsTTG