ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915970819
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68115
ClinVar RCV Id:
RCV000058945
RCV001329307
RCV003387751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078896.2:p.Arg386Cys
CA218986
NM_001085427.3:c.1156C>T