Canonical Allele Identifier: PA2579800555
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu400Leu
CA2579810368
NM_000071.3:c.1198_1200delinsTTA
CA2579810369
NM_000071.3:c.1198_1200delinsCTT
CA2579810370
NM_000071.3:c.1198_1199delinsCT
CA2579810371
NM_000071.3:c.1198_1199delinsTT