Canonical Allele Identifier: PA2579792029
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr495Arg
CA410395835
NM_000071.3:c.1484C>G
CA2579803741
NM_000071.3:c.1483_1484delinsCG
CA2579803742
NM_000071.3:c.1483_1485delinsCGT