ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645397685
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373413
ClinVar RCV Id:
RCV000413811
RCV001578589
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Gly304Val
CA8234906
NM_000512.5:c.911G>T