ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915970648
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68145
ClinVar RCV Id:
RCV000058976
RCV001380269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078896.2:p.Ala214Pro
CA219046
NM_001085427.3:c.640G>C