ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827185512
Gene: PHYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7588
ClinVar RCV Id:
RCV000008026
RCV001851728
RCV003473056
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310009.1:p.Arg175Gln
CA118908
NM_001323080.2:c.524G>A