ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645397689
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
321198
ClinVar RCV Id:
RCV000280847
RCV000675534
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Gln334Arg
CA8234879
NM_000512.5:c.1001A>G