ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097992
Gene: GALNS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Gly116Val
CA397088171
NM_000512.5:c.347G>T