ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828065285
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3093
ClinVar RCV Id:
RCV000003239
RCV000058989
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Cys216Phe
CA116011
NM_001362782.2:c.647G>T