ClinGen Allele Registry
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Canonical Allele Identifier:
PA916043475
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
18096
ClinVar RCV:
RCV000003202
RCV000003203
RCV000020320
RCV000657846
RCV001267385
ClinVar Variation:
3057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Ile95Ser
CA115962
NM_001362782.2:c.284T>G