Canonical Allele Identifier: PA2579801555
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro447Ser
CA410396937
NM_000071.3:c.1339C>T
CA2579805138
NM_000071.3:c.1339_1341delinsAGT
CA2579805139
NM_000071.3:c.1339_1341delinsTCT
CA2579805140
NM_000071.3:c.1339_1341delinsTCG