Canonical Allele Identifier: PA2828720467
Gene: GPHN HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364443.1:p.Val43Leu
CA7233641
NM_001377514.1:c.127G>T
CA390255670
NM_001377514.1:c.127G>C