ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825520017
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3075
ClinVar RCV Id:
RCV000003221
RCV000169246
RCV000991546
RCV003904799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078897.1:p.Thr190Met
CA115985
NM_001085428.3:c.569C>T