Canonical Allele Identifier: PA2579792561
Gene: CBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr53Ala
CA410602326
NM_000071.3:c.157A>G
CA2579813383
NM_000071.3:c.157_159delinsGCA