ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829693730
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
957851
ClinVar RCV Id:
RCV001230912
RCV003158576
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Gln1252Glu
CA10594174
NM_007297.4:c.3754C>G