Canonical Allele Identifier: PA2579795808
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val178Arg
CA2579803306
NM_000071.3:c.532_533delinsCG
CA2579803307
NM_000071.3:c.532_533delinsAG
CA2579803309
NM_000071.3:c.532_534delinsCGT