Canonical Allele Identifier: PA2579792173
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.His501Pro
CA410395759
NM_000071.3:c.1502A>C
CA2579809143
NM_000071.3:c.1502_1503delinsCG
CA2579809144
NM_000071.3:c.1502_1503delinsCT
CA2579813674
NM_000071.3:c.1502_1503delinsCA