ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827194384
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_001310473.1:p.Val289Ala
CA397076128
NM_001323544.2:c.866T>C