Canonical Allele Identifier: PA2579801362
Gene: CBS HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu438Ser
CA2579807226
NM_000071.3:c.1312_1314delinsAGT
CA2579807227
NM_000071.3:c.1312_1314delinsTCG