ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573270161
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1407199
ClinVar RCV Id:
RCV001918321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.4:p.His546Tyr
CA21911028
NM_017739.4:c.1636C>T