Canonical Allele Identifier: PA2579792179
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile502Ser
CA410395740
NM_000071.3:c.1505T>G
CA2579807939
NM_000071.3:c.1504_1506delinsTCT
CA2579807940
NM_000071.3:c.1504_1506delinsTCG
CA2579807941
NM_000071.3:c.1505_1506delinsGT