ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115959
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3053
ClinVar RCV Id:
RCV000003198
RCV000020318
RCV000724149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Gly101Asp
CA115958
NM_000487.5:c.302G>A