ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915970679
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_001078896.2:p.Glu255Lys
CA116007
NM_001085427.3:c.763G>A