ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825518579
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3052
ClinVar RCV Id:
RCV000003197
RCV000003195
RCV000003196
RCV000020314
RCV000392246
RCV001251909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078894.2:p.Pro428Leu
CA115956
NM_001085425.3:c.1283C>T