ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096832
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212862
ClinVar RCV Id:
RCV000196393
RCV000410135
RCV002229026
RCV003401061
RCV002433873
RCV003895256
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000062.1:p.Val371Met
CA320805
NM_000071.3:c.1111G>A