ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827194219
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167127
ClinVar RCV Id:
RCV000153304
RCV003155092
RCV001294423
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310473.1:p.Arg100His
CA234076
NM_001323544.2:c.299G>A