ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107127
Gene: PAFAH1B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8080
ClinVar RCV Id:
RCV000008547
RCV001851740
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000421.1:p.Arg241Pro
CA119278
NM_000430.4:c.722G>C