ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057562437
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004557317
ClinVar Variation:
3237236
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Pro147Ala
CA412176707
NM_001362782.2:c.439C>G