Canonical Allele Identifier: PA2579796350
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro21Ala
CA410602527
NM_000071.3:c.61C>G
CA2579806982
NM_000071.3:c.61_63delinsGCT
CA2579813500
NM_000071.3:c.61_63delinsGCG