ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580322390
Gene: GTF2H1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2471402
ClinVar RCV Id:
RCV004261897
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005307.1:p.Asn81Ser
CA5910673
NM_005316.4:c.242A>G