ClinGen Allele Registry
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Canonical Allele Identifier:
PA342762
Gene: SRCAP
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_006653.2:p.Arg2444Ter
NM_006662.3:c.7330C>T