ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA219075
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
79050
ClinVar RCV:
RCV000058991
RCV000578460
ClinVar Variation:
68159
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Thr306Met
CA219074
NM_000487.5:c.917C>T