ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825805365
Gene: PPT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000585383
RCV001277583
ClinVar Variation:
493034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136076.1:p.Lys113Arg
CA339846898
NM_001142604.2:c.338A>G