ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825188846
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_000478.3:p.Thr276Lys
CA412175847
NM_000487.5:c.827C>A