ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913195682
Gene: PPT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000761650
ClinVar Variation:
623681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000301.1:p.Tyr215Cys
CA339846912
NM_000310.4:c.644A>G