ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828065426
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3092
ClinVar RCV Id:
RCV000003238
RCV001376978
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Thr324Ile
CA116009
NM_001362782.2:c.971C>T