ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573247746
Gene: PRF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1498158
ClinVar RCV Id:
RCV002019592
RCV003464374
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005032.2:p.Glu253Lys
CA5538922
NM_005041.6:c.757G>A