Canonical Allele Identifier: PA2579792024
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp494His
CA410395866
NM_000071.3:c.1480G>C
CA2579811201
NM_000071.3:c.1480_1482delinsCAT