ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098703
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521930
ClinVar RCV Id:
RCV000622775
RCV001193736
RCV001578493
RCV003420080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Ser80Leu
CA397091149
NM_000512.5:c.239C>T