Canonical Allele Identifier: PA2579792484
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile516Arg
CA2579808421
NM_000071.3:c.1547_1548delinsGG
CA2579808423
NM_000071.3:c.1546_1548delinsCGG