Canonical Allele Identifier: PA2579801429
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg45Ser
CA2579811922
NM_000071.3:c.133_134delinsTC
CA2579811923
NM_000071.3:c.133_135delinsTCT
CA2579811924
NM_000071.3:c.133_135delinsAGT