ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113637
Gene: GPHN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
88674
ClinVar RCV Id:
RCV000074361
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019389.1:p.Asp580Ala
CA145288
NM_001024218.2:c.1739A>C