ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573169959
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1441991
ClinVar RCV Id:
RCV001952884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Val5Ile
CA397102215
NM_000512.5:c.13G>A