ClinGen Allele Registry
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Canonical Allele Identifier:
PA115978
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
18103
ClinVar RCV:
RCV000003210
RCV000675081
ClinVar Variation:
3064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Pro138Leu
CA115977
NM_000487.5:c.413C>T