Canonical Allele Identifier: PA2573074545
Gene: GPHN HGNC NCBI
ClinVar Allele:
94254
ClinVar RCV:
RCV000074361
ClinVar Variation:
88674
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364443.1:p.Asp633Ala
CA145288
NM_001377514.1:c.1898A>C