ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580348365
Gene: SRCAP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006653.2:p.Arg2002His
CA8012126
NM_006662.3:c.6005G>A