ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573169097
Gene: PAFAH1B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1406323
ClinVar RCV Id:
RCV001915770
RCV003401867
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000421.1:p.Ile216Val
CA8283232
NM_000430.4:c.646A>G