ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573193763
Gene: H6PD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002132101
ClinVar Variation:
1600034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269516.1:p.Pro565Leu
CA575372
NM_001282587.2:c.1694C>T