Canonical Allele Identifier: PA2579801128
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro427Ser
CA410397251
NM_000071.3:c.1279C>T
CA2579805168
NM_000071.3:c.1279_1281delinsAGT
CA2579805169
NM_000071.3:c.1279_1281delinsTCT
CA2579805170
NM_000071.3:c.1279_1281delinsTCC
CA2579805171
NM_000071.3:c.1279_1281delinsTCA