ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828720721
Gene: GPHN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364444.1:p.Val43Ile
CA7233642
NM_001377515.1:c.127G>A