ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658665443
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450065
ClinVar RCV Id:
RCV000521643
RCV001350739
RCV002527600
RCV001814999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000017.1:p.Arg296Trp
CA10247865
NM_000026.3:c.886C>T