Canonical Allele Identifier: PA2579792509
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln517Thr
CA2579810315
NM_000071.3:c.1549_1551delinsACT
CA2579810316
NM_000071.3:c.1549_1550delinsAC