Canonical Allele Identifier: PA2579794087
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val10Thr
CA2579803352
NM_000071.3:c.28_29delinsAC
CA2579803353
NM_000071.3:c.28_30delinsACT