ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825520428
Gene: GIT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3099912
ClinVar RCV Id:
RCV004390737
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078923.1:p.Tyr719Cys
CA8475761
NM_001085454.1:c.2156A>G