ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA220988
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3063
ClinVar RCV Id:
RCV000003209
RCV000078945
RCV000623394
RCV003415633
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Gly124Ser
CA220987
NM_000487.5:c.370G>A