ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825518471
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93128
ClinVar RCV Id:
RCV000078952
RCV000723561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078894.2:p.Thr329Ile
CA278425
NM_001085425.3:c.986C>T