ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499247943
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1063845
ClinVar RCV Id:
RCV001373726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001304852.1:p.His43Tyr
CA411635272
NM_001317923.2:c.127C>T