Canonical Allele Identifier: PA2579795788
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys177Arg
CA410601262
NM_000071.3:c.530A>G
CA2579806830
NM_000071.3:c.529_531delinsCGT
CA2579806832
NM_000071.3:c.529_530delinsCG