ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115998
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3084
ClinVar RCV Id:
RCV000003230
RCV000078936
RCV000723624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Glu384Lys
CA115997
NM_000487.5:c.1150G>A