ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828719621
Gene: GAN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
533932
ClinVar RCV Id:
RCV000641259
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364415.1:p.Ala248Glu
CA396891273
NM_001377486.1:c.743C>A