Canonical Allele Identifier: PA2579792005
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp494Ser
CA2579811190
NM_000071.3:c.1480_1482delinsAGT
CA2579811191
NM_000071.3:c.1480_1482delinsTCG
CA2579811192
NM_000071.3:c.1480_1481delinsTC