ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826972407
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1059960
ClinVar RCV Id:
RCV001369328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304852.1:p.Thr386Ile
CA324460860
NM_001317923.2:c.1157C>T