ClinGen Allele Registry
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Canonical Allele Identifier:
PA915970851
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
18091
ClinVar RCV:
RCV000003195
RCV000003196
RCV000003197
RCV000020314
RCV000392246
RCV001251909
ClinVar Variation:
3052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078896.2:p.Pro428Leu
CA115956
NM_001085427.3:c.1283C>T