ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825204633
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2156006
ClinVar RCV Id:
RCV003075237
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Val283Ala
CA397076128
NM_000512.5:c.848T>C