Canonical Allele Identifier: PA2579792301
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.His507Pro
CA410395680
NM_000071.3:c.1520A>C
CA2579809117
NM_000071.3:c.1520_1521delinsCA
CA2579809118
NM_000071.3:c.1520_1521delinsCG
CA2579813673
NM_000071.3:c.1520_1521delinsCT