Canonical Allele Identifier: PA2579798768
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg317Ser
CA410599936
NM_000071.3:c.951G>T
CA410599937
NM_000071.3:c.951G>C
CA2579812133
NM_000071.3:c.949_951delinsTCT
CA2579812136
NM_000071.3:c.949_950delinsTC