ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580215094
Gene: GALNS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310473.1:p.Pro169Leu
CA397083063
NM_001323544.2:c.506C>T