ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107172
Gene: PAFAH1B1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000421.1:p.His277Pro
NM_000430.4:c.830A>C