Canonical Allele Identifier: PA2830461089
Gene: PYHIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161854
ClinVar RCV Id: RCV000149390
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_945146.1:p.Arg192His
CA174912
NM_198928.4:c.575G>A