ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741816614
Gene: PAFAH1B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2573003
ClinVar RCV Id:
RCV003315117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000421.1:p.Gly190Val
CA397641036
NM_000430.4:c.569G>T