Canonical Allele Identifier: PA2579798040
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu283Arg
CA2579809997
NM_000071.3:c.847_848delinsCG
CA2579809998
NM_000071.3:c.847_848delinsAG
CA2579809999
NM_000071.3:c.847_849delinsAGG
CA2579810000
NM_000071.3:c.847_849delinsCGT