ClinGen Allele Registry
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Canonical Allele Identifier:
PA341709
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_000478.3:p.Asp257His
CA341708
NM_000487.5:c.769G>C