ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096044
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197625
ClinVar RCV Id:
RCV000178709
RCV000723426
RCV001804908
RCV002228790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000062.1:p.Arg125Gln
CA275291
NM_000071.3:c.374G>A