ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827194030
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193597
ClinVar RCV Id:
RCV000173702
RCV000697370
RCV001844067
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310472.1:p.Arg191Gln
CA239140
NM_001323543.2:c.572G>A