ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645402149
Gene: GNPAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
296120
ClinVar RCV Id:
RCV000390788
RCV001511741
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055051.1:p.Asn348Ser
CA1451947
NM_014236.4:c.1043A>G