Canonical Allele Identifier: PA2827043046
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Pro145Arg
CA410601659
NM_001320298.2:c.434C>G
CA2579805930
NM_001320298.2:c.434_435delinsGT
CA2579805931
NM_001320298.2:c.433_434delinsAG