Canonical Allele Identifier: PA1139696239
Gene: CBS HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Asn228Lys
CA410600615
NM_001320298.2:c.684C>G
CA410600617
NM_001320298.2:c.684C>A