Canonical Allele Identifier: PA2579794683
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu124Val
CA410601847
NM_000071.3:c.370C>G
CA2579807914
NM_000071.3:c.370_372delinsGTT