ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828721160
Gene: GPHN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000642138
ClinVar Variation:
534546
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364445.1:p.Val103Ile
CA7233727
NM_001377516.1:c.307G>A