Canonical Allele Identifier: PA2579801065
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr424Ser
CA410397292
NM_000071.3:c.1271C>G
CA410397296
NM_000071.3:c.1270A>T
CA2579804279
NM_000071.3:c.1270_1272delinsTCT
CA2579804280
NM_000071.3:c.1270_1272delinsTCA