ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645397639
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
321211
ClinVar RCV Id:
RCV000307369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Ser18Thr
CA8235408
NM_000512.5:c.53G>C