Canonical Allele Identifier: PA2579794195
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly100Glu
CA2579810128
NM_000071.3:c.299_300delinsAG
CA2579810129
NM_000071.3:c.299_300delinsAA