ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827070475
Gene: CBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308001.1:p.Asp223Asn
CA321090579
NM_001321072.1:c.667G>A