Canonical Allele Identifier: PA2579801392
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg439Leu
CA410397048
NM_000071.3:c.1316G>T
CA2579811946
NM_000071.3:c.1316_1317delinsTT
CA2579811947
NM_000071.3:c.1315_1316delinsTT