ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA245328
Gene: SRCAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197283
ClinVar RCV Id:
RCV000178280
RCV002478591
RCV003298224
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006653.2:p.Ser21Leu
CA245327
NM_006662.3:c.62C>T