ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825204894
Gene: GALNS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Ser470Leu
CA8234672
NM_000512.5:c.1409C>T