ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827070274
Gene: CBS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000169294
RCV000197988
RCV000780084
RCV000790997
RCV002228778
RCV003128393
ClinVar Variation:
188927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308001.1:p.Thr152Met
CA274140
NM_001321072.1:c.455C>T