ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825519225
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_001078895.2:p.Pro379Leu
CA115995
NM_001085426.3:c.1136C>T