ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645397682
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379921
ClinVar RCV Id:
RCV000420010
RCV001578578
RCV004526672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Ala291Ser
CA16607530
NM_000512.5:c.871G>T