ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139690301
Gene: PAFAH1B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
931348
ClinVar RCV Id:
RCV001197820
RCV002298899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000421.1:p.Val221Met
CA397641516
NM_000430.4:c.661G>A