Canonical Allele Identifier: PA2579801363
Gene: CBS HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu438Ala
CA2579807242
NM_000071.3:c.1312_1314delinsGCT
CA2579807243
NM_000071.3:c.1312_1314delinsGCG