ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA226048
Gene: GUCY2D
HGNC
NCBI
Linked Data
ClinVar Variation Id:
98543
ClinVar RCV Id:
RCV000084834
RCV000356487
RCV001084922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000171.1:p.Leu513Phe
CA226047
NM_000180.4:c.1537C>T