ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825585070
Gene: PHKA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2660918
ClinVar RCV Id:
RCV003439647
RCV003621709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116142.1:p.His229Arg
CA10451011
NM_001122670.2:c.686A>G