ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825189045
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003607606
ClinVar Variation:
2775712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Pro379Gln
CA10324808
NM_000487.5:c.1136C>A