ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828065296
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68161
ClinVar RCV Id:
RCV000058993
RCV000670369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Tyr222His
CA219078
NM_001362782.2:c.664T>C