ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573274925
Gene: GPHN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065857.1:p.Pro46Ser
CA7233645
NM_020806.5:c.136C>T