ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825929108
Gene: P3H1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000610522
RCV000999909
RCV001096112
RCV001573726
RCV002279355
ClinVar Variation:
468985
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139761.1:p.Pro204His
CA802142
NM_001146289.2:c.611C>A