ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828065520
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198734
ClinVar RCV Id:
RCV000180165
RCV000388131
RCV003927699
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Glu397Lys
CA247540
NM_001362782.2:c.1189G>A