Canonical Allele Identifier: PA2827070410
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Gly200Arg
CA410600016
NM_001321072.1:c.598G>C
CA410600017
NM_001321072.1:c.598G>A
CA2579813691
NM_001321072.1:c.598_600delinsCGT
CA3273294709
NM_001321072.1:c.598_600delinsAGA
CA3273294711
NM_001321072.1:c.598_600delinsCGA
CA3273294713
NM_001321072.1:c.598_600delinsCGC