ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827073579
Gene: PGAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
474990
ClinVar RCV Id:
RCV000534110
RCV003483668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308028.1:p.Ile346Val
CA2040874
NM_001321099.2:c.1036A>G