Canonical Allele Identifier: PA2579798408
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr300Leu
CA2579804065
NM_000071.3:c.898_900delinsCTT
CA2579804067
NM_000071.3:c.898_900delinsTTG
CA2579804068
NM_000071.3:c.898_900delinsCTG