ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825519557
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3069
ClinVar RCV Id:
RCV000003215
RCV000540770
RCV001251908
RCV002265546
RCV003480017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078896.2:p.Asp171Asn
CA115981
NM_001085427.3:c.511G>A