ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107195
Gene: PAFAH1B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8076
ClinVar RCV Id:
RCV000008543
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000421.1:p.Ser169Pro
CA119277
NM_000430.4:c.505T>C