Canonical Allele Identifier: PA2579793728
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ala8Pro
CA410602602
NM_000071.3:c.22G>C
CA2579812236
NM_000071.3:c.22_24delinsCCC
CA2579812237
NM_000071.3:c.22_24delinsCCT
CA2579812238
NM_000071.3:c.22_24delinsCCG