Canonical Allele Identifier: PA2579792285
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.His507Ser
CA2579809114
NM_000071.3:c.1519_1520delinsAG
CA2579809115
NM_000071.3:c.1519_1521delinsTCT
CA2579809116
NM_000071.3:c.1519_1521delinsTCG