Canonical Allele Identifier: PA2579798254
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu293Ile
CA2579807575
NM_000071.3:c.877_879delinsATT
CA2579807576
NM_000071.3:c.877_879delinsATC
CA2579807577
NM_000071.3:c.877_879delinsATA