ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825204395
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1428872
ClinVar RCV Id:
RCV001936520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Val138Ile
CA8235172
NM_000512.5:c.412G>A