ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043992
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236407
ClinVar RCV Id:
RCV000225555
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350624.1:p.Pro238Leu
CA10581621
NM_001363695.2:c.713C>T