ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA219063
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68153
ClinVar RCV Id:
RCV000058984
RCV000668693
RCV003905027
RCV004019068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Arg290His
CA219062
NM_000487.5:c.869G>A