Canonical Allele Identifier: PA2741863199
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Arg336Ser
CA410599800
NM_001320298.2:c.1006C>A
CA2579812114
NM_001320298.2:c.1006_1008delinsTCT
CA2579812115
NM_001320298.2:c.1006_1008delinsAGT