ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825188959
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000003225
ClinVar Variation:
3079
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Gly327Cys
CA412174211
NM_000487.5:c.979G>T