ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826972216
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
529216
ClinVar RCV Id:
RCV000634539
RCV001269550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304852.1:p.Arg130His
CA10247760
NM_001317923.2:c.389G>A