ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829700222
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480987
ClinVar RCV Id:
RCV000563313
RCV000637803
RCV001124850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Glu348Gly
CA10593019
NM_007298.3:c.1043A>G