ClinGen Allele Registry
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Canonical Allele Identifier:
PA916043461
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
79026
ClinVar RCV:
RCV000058966
RCV002513773
ClinVar Variation:
68135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Asp68Tyr
CA219026
NM_001362782.2:c.202G>T