Canonical Allele Identifier: PA2579792980
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu539Val
CA410394672
NM_000071.3:c.1615T>G
CA2579806936
NM_000071.3:c.1615_1617delinsGTA
CA2579806938
NM_000071.3:c.1615_1617delinsGTT