Canonical Allele Identifier: PA2579797174
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser3Leu
CA2579804927
NM_000071.3:c.8_9delinsTG
CA2579804928
NM_000071.3:c.7_8delinsCT
CA2579804929
NM_000071.3:c.7_9delinsCTG