Canonical Allele Identifier: PA2579801314
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile44Gly
CA2579808049
NM_000071.3:c.130_132delinsGGT
CA2579813631
NM_000071.3:c.130_132delinsGGG