ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024399
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000169294
RCV000197988
RCV000780084
RCV000790997
RCV002228778
RCV003128393
ClinVar Variation:
188927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307227.1:p.Thr257Met
CA274140
NM_001320298.2:c.770C>T