ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024415
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496864
ClinVar RCV Id:
RCV000723460
RCV001805199
RCV002232228
RCV003459461
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307227.1:p.Glu302Lys
CA321091356
NM_001320298.2:c.904G>A