Canonical Allele Identifier: PA2579794047
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn93His
CA410602067
NM_000071.3:c.277A>C
CA2579811592
NM_000071.3:c.277_279delinsCAT