Canonical Allele Identifier: PA2579798250
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu293Arg
CA410600092
NM_000071.3:c.878T>G
CA2579807583
NM_000071.3:c.878_879delinsGT
CA2579807586
NM_000071.3:c.877_878delinsAG
CA2579813624
NM_000071.3:c.878_879delinsGA