Canonical Allele Identifier: PA2579802488
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile490Leu
CA410395910
NM_000071.3:c.1468A>C
CA2579807972
NM_000071.3:c.1468_1470delinsCTT
CA2579807973
NM_000071.3:c.1468_1470delinsCTA
CA2579807974
NM_000071.3:c.1468_1470delinsCTG
CA2579807975
NM_000071.3:c.1468_1470delinsTTG