Canonical Allele Identifier: PA2579795725
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser174Arg
CA410601296
NM_000071.3:c.522C>G
CA410601297
NM_000071.3:c.522C>A
CA410601302
NM_000071.3:c.520A>C
CA2579804758
NM_000071.3:c.520_522delinsCGT
CA2579813465
NM_000071.3:c.520_522delinsCGG