ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915970658
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
348254
ClinVar RCV:
RCV000301678
ClinVar Variation:
342237
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078896.2:p.Pro220Leu
CA10324952
NM_001085427.3:c.659C>T