ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827329362
Gene: GIT2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317082.1:p.Ala501Val
CA6781633
NM_001330153.2:c.1502C>T