ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573200019
Gene: GALNS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310473.1:p.Ala488Val
CA397094226
NM_001323544.2:c.1463C>T