ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024401
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198988
ClinVar RCV Id:
RCV000180461
RCV000200469
RCV001251422
RCV002228800
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307227.1:p.Thr262Met
CA275440
NM_001320298.2:c.785C>T