ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826575771
Gene: POMK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2094836
ClinVar RCV Id:
RCV003010446
RCV003013653
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001264900.1:p.Arg200Trp
CA4736313
NM_001277971.2:c.598C>T