ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827194339
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198426
ClinVar RCV Id:
RCV000298139
RCV000826109
RCV001544508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310473.1:p.Gly253Asp
CA247067
NM_001323544.2:c.758G>A