ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828721113
Gene: GPHN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364445.1:p.Val17Ile
CA7233596
NM_001377516.1:c.49G>A