ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115990
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3080
ClinVar RCV Id:
RCV000003226
RCV000169024
RCV000413321
RCV000414806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Asp337Val
CA115989
NM_000487.5:c.1010A>T