ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825519990
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3091
ClinVar RCV Id:
RCV000003237
RCV000364541
RCV000169048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078897.1:p.Glu169Lys
CA116007
NM_001085428.3:c.505G>A