Canonical Allele Identifier: PA2828721947
Gene: GPHN HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364447.1:p.Leu48Phe
CA390255173
NM_001377518.1:c.144G>C
CA390255174
NM_001377518.1:c.144G>T