ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827185947
Gene: PHYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
299244
ClinVar RCV Id:
RCV000314971
RCV000883928
RCV003950006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310012.1:p.Arg239Gln
CA5412178
NM_001323083.2:c.716G>A