ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828720712
Gene: GPHN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000642141
RCV003338709
ClinVar Variation:
534549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364444.1:p.Asn29Ser
CA7233631
NM_001377515.1:c.86A>G