Canonical Allele Identifier: PA2579802483
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile490Val
CA410395909
NM_000071.3:c.1468A>G
CA2579807962
NM_000071.3:c.1468_1470delinsGTG
CA2579807963
NM_000071.3:c.1468_1470delinsGTA
CA2579807966
NM_000071.3:c.1468_1470delinsGTT