ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658667000
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479249
ClinVar RCV Id:
RCV000567123
RCV000703254
RCV001591319
RCV002232396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Tyr1127His
CA10595220
NM_007294.4:c.3379T>C