Canonical Allele Identifier: PA2579792349
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro6Ala
CA410602616
NM_000071.3:c.16C>G
CA2579804844
NM_000071.3:c.16_18delinsGCG
CA2579804845
NM_000071.3:c.16_18delinsGCT
CA2579813475
NM_000071.3:c.16_18delinsGCA