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2026-08-07T10:00:00-0500
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2026-08-14T18:00:00-0500
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ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139697001
Gene: CBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308001.1:p.Ile38Met
CA410601680
NM_001321072.1:c.114C>G