ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573093134
Gene: POMGNT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001847572
ClinVar Variation:
3990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.4:p.Pro493Arg
CA116544
NM_017739.4:c.1478C>G