Canonical Allele Identifier: PA2579793684
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile76Asn
CA410602173
NM_000071.3:c.227T>A
CA2579808377
NM_000071.3:c.227_228delinsAT