Canonical Allele Identifier: PA2579801496
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp444Arg
CA2579811722
NM_000071.3:c.1330_1332delinsAGG
CA2579811723
NM_000071.3:c.1330_1332delinsCGG
CA2579811724
NM_000071.3:c.1330_1332delinsCGT