Canonical Allele Identifier: PA2579799842
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly367Arg
CA410398076
NM_000071.3:c.1099G>C
CA2579809272
NM_000071.3:c.1099_1101delinsAGG
CA2579809273
NM_000071.3:c.1099_1101delinsAGA
CA2579809274
NM_000071.3:c.1099_1101delinsCGG