ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA174914
Gene: PYHIN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161854
ClinVar RCV Id:
RCV000149390
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689714.2:p.Arg201His
CA174912
NM_152501.5:c.602G>A