ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098787
Gene: GALNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000000734
ClinVar Variation:
699
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Val138Ala
CA251564
NM_000512.5:c.413T>C