ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827185849
Gene: PHYH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
299255
ClinVar RCV Id:
RCV000319288
RCV000960582
RCV003930251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310012.1:p.Thr119Met
CA5412402
NM_001323083.2:c.356C>T