ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825520228
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
79011
ClinVar RCV:
RCV000058950
RCV001854228
ClinVar Variation:
68120
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078897.1:p.Tyr345Ser
CA218996
NM_001085428.3:c.1034A>C