Canonical Allele Identifier: PA2579800662
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys405Leu
CA2579806122
NM_000071.3:c.1213_1215delinsTTA
CA2579806123
NM_000071.3:c.1213_1215delinsCTT
CA2579806124
NM_000071.3:c.1213_1214delinsTT
CA2579806125
NM_000071.3:c.1213_1214delinsCT