ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828065221
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
34039
ClinVar RCV:
RCV000020322
RCV000255092
ClinVar Variation:
21187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Asp171His
CA341708
NM_001362782.2:c.511G>C