Canonical Allele Identifier: PA2579792182
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile502Arg
CA2579807957
NM_000071.3:c.1505_1506delinsGG
CA2579807958
NM_000071.3:c.1504_1506delinsCGG
CA2579807959
NM_000071.3:c.1504_1506delinsCGT