Canonical Allele Identifier: PA2579798247
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu293Ser
CA2579807568
NM_000071.3:c.877_878delinsTC
CA2579807569
NM_000071.3:c.877_879delinsAGT
CA2579813623
NM_000071.3:c.877_879delinsTCT