ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111145
Gene: PPT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8899
ClinVar RCV Id:
RCV000009450
RCV000188724
RCV000581618
RCV000623227
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000301.1:p.Arg122Trp
CA316952
NM_000310.4:c.364A>T