ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827193952
Gene: GALNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
196191
ClinVar RCV:
RCV000180514
RCV000624404
RCV001193735
RCV001389837
ClinVar Variation:
199031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310472.1:p.Met133Arg
CA275446
NM_001323543.2:c.398T>G