Canonical Allele Identifier: PA2579796612
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn216Ser
CA321095810
NM_000071.3:c.647A>G
CA2579811856
NM_000071.3:c.646_647delinsTC
CA2579811857
NM_000071.3:c.646_648delinsTCG