ClinGen Allele Registry
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Canonical Allele Identifier:
PA916043967
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206635
ClinVar RCV Id:
RCV000188701
RCV000641277
RCV003362718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350624.1:p.Lys104Glu
CA316906
NM_001363695.2:c.310A>G