ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139668492
Gene: GALNS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Asp40His
CA397100975
NM_000512.5:c.118G>C