ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026927
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
700
ClinVar RCV Id:
RCV000000735
RCV000079019
RCV000781397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310473.1:p.Arg392Cys
CA221040
NM_001323544.2:c.1174C>T