ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095966
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212857
ClinVar RCV Id:
RCV000199169
RCV001778782
RCV002228833
RCV003462305
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000062.1:p.Ala331Glu
CA323703
NM_000071.3:c.992C>A