Canonical Allele Identifier: PA2579795636
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro170Ser
CA410601348
NM_000071.3:c.508C>T
CA2579805874
NM_000071.3:c.508_510delinsTCT
CA2579805875
NM_000071.3:c.508_510delinsTCC