ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA312334
Gene: ASL
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001892645
ClinVar Variation:
1383503
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000039.2:p.Ala398Asp
CA312333
NM_000048.4:c.1193C>A