ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499249120
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1048423
ClinVar RCV Id:
RCV001578525
RCV001685351
RCV003388001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310473.1:p.Phe291del
CA8234958
NM_001323544.2:c.871_873del