Canonical Allele Identifier: PA2579796558
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu213Leu
CA2579810035
NM_000071.3:c.637_638delinsTT
CA2579810036
NM_000071.3:c.637_639delinsTTG
CA2579810037
NM_000071.3:c.637_639delinsCTT
CA2579810038
NM_000071.3:c.637_639delinsCTG
CA2579813778
NM_000071.3:c.637_638delinsCT