ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825518439
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
79055
ClinVar RCV:
RCV000058996
RCV000995697
ClinVar Variation:
68164
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078894.2:p.Gly310Val
CA219084
NM_001085425.3:c.929G>T