ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825520159
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3083
ClinVar RCV Id:
RCV000003229
RCV002512051
RCV003500499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078897.1:p.Pro293Leu
CA115995
NM_001085428.3:c.878C>T