Canonical Allele Identifier: PA2579801348
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile437Lys
CA2579808079
NM_000071.3:c.1310_1311delinsAG
CA2579808081
NM_000071.3:c.1310_1311delinsAA