Canonical Allele Identifier: PA2579792185
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile502Thr
CA410395743
NM_000071.3:c.1505T>C
CA2579807934
NM_000071.3:c.1505_1506delinsCT
CA2579807936
NM_000071.3:c.1505_1506delinsCG