ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827073754
Gene: PGAP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308028.1:p.Leu649Val
CA2040622
NM_001321099.2:c.1945C>G