Canonical Allele Identifier: PA2579793866
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly85Asp
CA2579808899
NM_000071.3:c.254_255delinsAC
CA2579808901
NM_000071.3:c.254_255delinsAT