ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108249
Gene: PHYH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_006205.1:p.Arg275Trp
NM_006214.4:c.823C>T