ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091280
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2461
ClinVar RCV Id:
RCV000002565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000017.1:p.Ser438Pro
CA115564
NM_000026.3:c.1312T>C