Canonical Allele Identifier: PA2579792395
Gene: CBS HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val512Ser
CA2579802834
NM_000071.3:c.1534_1536delinsTCT
CA2579813345
NM_000071.3:c.1534_1535delinsTC