ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139738724
Gene: P3H2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
943517
ClinVar RCV Id:
RCV001213718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060662.2:p.His172Asp
CA355759947
NM_018192.4:c.514C>G