ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828722669
Gene: GPHN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364448.1:p.Arg712His
CA7234312
NM_001377519.1:c.2135G>A