ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828065170
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
807542
ClinVar RCV Id:
RCV000995698
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Ala140Asp
CA412176905
NM_001362782.2:c.419C>A