ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828721840
Gene: GPHN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
94254
ClinVar RCV:
RCV000074361
ClinVar Variation:
88674
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364446.1:p.Asp604Ala
CA145288
NM_001377517.1:c.1811A>C