ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499249135
Gene: GALNS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310473.1:p.Leu313Pro
CA397101433
NM_001323544.2:c.938T>C