Canonical Allele Identifier: PA2827070603
Gene: CBS HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Val266Leu
CA410398030
NM_001321072.1:c.796G>T
CA410398031
NM_001321072.1:c.796G>C
CA2579803099
NM_001321072.1:c.796_798delinsCTT