Canonical Allele Identifier: PA2579801628
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp450Gly
CA410396901
NM_000071.3:c.1349A>G
CA2579811696
NM_000071.3:c.1349_1350delinsGC
CA2579811697
NM_000071.3:c.1349_1350delinsGG