ClinGen Allele Registry
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Canonical Allele Identifier:
PA916043454
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
79022
ClinVar RCV:
RCV000058962
RCV001854229
ClinVar Variation:
68131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Pro52Ser
CA219018
NM_001362782.2:c.154C>T