Canonical Allele Identifier: PA2579800805
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu412Ser
CA2579807766
NM_000071.3:c.1234_1235delinsTC
CA2579807768
NM_000071.3:c.1234_1236delinsAGT
CA2579813589
NM_000071.3:c.1234_1236delinsTCT