Canonical Allele Identifier: PA096004
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ala446Ser
CA410396946
NM_000071.3:c.1336G>T
CA2579812566
NM_000071.3:c.1336_1338delinsTCC
CA2579812567
NM_000071.3:c.1336_1338delinsAGT
CA2579812569
NM_000071.3:c.1336_1338delinsTCT