ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098447
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
321204
ClinVar RCV Id:
RCV000322011
RCV002254293
RCV003987507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Phe167Val
CA8235120
NM_000512.5:c.499T>G