Canonical Allele Identifier: PA2579796618
Gene: CBS HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn216Leu
CA2579812266
NM_000071.3:c.646_647delinsCT
CA2579812267
NM_000071.3:c.646_648delinsTTG