ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827070717
Gene: CBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308001.1:p.Val320Met
CA325175
NM_001321072.1:c.958G>A