ClinGen Allele Registry
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Canonical Allele Identifier:
PA916026797
Gene: PHYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198539
ClinVar RCV Id:
RCV000179914
RCV000665931
RCV000950185
RCV000755125
RCV001258288
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310011.1:p.Arg247Gln
CA203488
NM_001323082.2:c.740G>A