ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741845103
Gene: HIF1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230013.1:p.Pro606Ser
CA7216005
NM_001243084.2:c.1816C>T