Canonical Allele Identifier: PA2579799184
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg336Ser
CA410599800
NM_000071.3:c.1006C>A
CA2579812114
NM_000071.3:c.1006_1008delinsTCT
CA2579812115
NM_000071.3:c.1006_1008delinsAGT