ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA173610
Gene: SRCAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
160039
ClinVar RCV Id:
RCV000147669
RCV000882474
RCV002498676
RCV002515984
RCV003975168
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006653.2:p.Leu2919Phe
CA173609
NM_006662.3:c.8755C>T