Canonical Allele Identifier: PA2579796530
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn212Arg
CA2579812298
NM_000071.3:c.635_636delinsGA
CA2579812299
NM_000071.3:c.634_636delinsCGT
CA2579812301
NM_000071.3:c.635_636delinsGG