Canonical Allele Identifier: PA2579792313
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Phe508Arg
CA2579805580
NM_000071.3:c.1522_1524delinsCGG
CA2579805582
NM_000071.3:c.1522_1524delinsAGG
CA2579813519
NM_000071.3:c.1522_1524delinsCGT