Canonical Allele Identifier: PA2499248497
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Arg336Pro
CA410599798
NM_001320298.2:c.1007G>C
CA3273290636
NM_001320298.2:c.1007_1008delinsCA
CA3273290637
NM_001320298.2:c.1007_1008delinsCG
CA3273290638
NM_001320298.2:c.1007_1008delinsCT