ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825518376
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
789096
ClinVar RCV:
RCV001172252
ClinVar Variation:
800499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078894.2:p.Thr276Lys
CA412175847
NM_001085425.3:c.827C>A