ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825188317
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2503923
ClinVar RCV Id:
RCV003230914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Pro73Leu
CA10325103
NM_000487.5:c.218C>T