ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA238575
Gene: NAGLU
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193069
ClinVar RCV Id:
RCV000173092
RCV003765083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000254.2:p.Val52Met
CA238574
NM_000263.4:c.154G>A