Canonical Allele Identifier: PA2579794670
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser123Gly
CA410601855
NM_000071.3:c.367A>G
CA2579804785
NM_000071.3:c.367_369delinsGGT
CA2579804786
NM_000071.3:c.367_369delinsGGG