ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828721563
Gene: GPHN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466209
ClinVar RCV Id:
RCV000548955
RCV002526142
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364446.1:p.Ala91Thr
CA7233704
NM_001377517.1:c.271G>A