Canonical Allele Identifier: PA2579802481
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile490Ser
CA410395900
NM_000071.3:c.1469T>G
CA2579807970
NM_000071.3:c.1469_1470delinsGT