ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA219005
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68124
ClinVar RCV Id:
RCV000058954
RCV003500500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Leu70Pro
CA219004
NM_000487.5:c.209T>C