ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829846130
Gene: PTRH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3149723
ClinVar RCV Id:
RCV004438079
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057161.1:p.Lys119Arg
CA400429196
NM_016077.5:c.356A>G