Canonical Allele Identifier: PA2579795600
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val168Ile
CA2579803313
NM_000071.3:c.502_504delinsATC
CA2579813368
NM_000071.3:c.502_504delinsATA
CA2579813369
NM_000071.3:c.502_504delinsATT