Canonical Allele Identifier: PA2579800125
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn380Leu
CA2579811632
NM_000071.3:c.1138_1140delinsCTT
CA2579811633
NM_000071.3:c.1138_1140delinsTTG