ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139748921
Gene: P3H1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
837722
ClinVar RCV Id:
RCV001039117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071751.3:p.Gly476Ser
CA801850
NM_022356.4:c.1426G>A