ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026912
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
520617
ClinVar RCV Id:
RCV000623443
RCV001235768
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310473.1:p.Ser301Phe
CA8234948
NM_001323544.2:c.902C>T