ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA174913
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_945148.1:p.Arg192His
CA174912
NM_198930.4:c.575G>A