ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499286759
Gene: GPHN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065857.1:p.Ile71Lys
CA390255339
NM_020806.5:c.212T>A