ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499249123
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1048426
ClinVar RCV Id:
RCV001578528
RCV003987849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310473.1:p.Asn295Ser
CA397076047
NM_001323544.2:c.884A>G