Canonical Allele Identifier: PA2579795073
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Cys15Ser
CA410602558
NM_000071.3:c.44G>C
CA410602562
NM_000071.3:c.43T>A
CA2579810990
NM_000071.3:c.44_45delinsCT
CA2579810991
NM_000071.3:c.43_45delinsAGT
CA2579813799
NM_000071.3:c.44_45delinsCG