ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA325177
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212866
ClinVar RCV Id:
RCV000554628
RCV000592999
RCV002315524
RCV002517169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000062.1:p.Val425Met
CA325175
NM_000071.3:c.1273G>A