Canonical Allele Identifier: PA2579799401
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Cys346Arg
CA410599740
NM_000071.3:c.1036T>C
CA2579811424
NM_000071.3:c.1036_1038delinsCGG
CA2579811425
NM_000071.3:c.1036_1038delinsCGT
CA2579811427
NM_000071.3:c.1036_1038delinsAGG