ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098714
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93184
ClinVar RCV Id:
RCV000179764
RCV001578303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Thr235Lys
CA221060
NM_000512.5:c.704C>A