ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573074545
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_001364443.1:p.Asp633Ala
CA145288
NM_001377514.1:c.1898A>C