ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828879762
Gene: GUCY1A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2472010
ClinVar RCV Id:
RCV004257563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366605.1:p.Ile484Met
CA3117529
NM_001379676.1:c.1452C>G