ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA145289
Gene: GPHN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
88674
ClinVar RCV Id:
RCV000074361
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065857.1:p.Asp613Ala
CA145288
NM_020806.5:c.1838A>C