ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573250614
Gene: SRCAP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006653.2:p.Pro48Leu
CA395596705
NM_006662.3:c.143C>T