ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829711551
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481435
ClinVar RCV Id:
RCV000570594
RCV001805191
RCV003767122
RCV003994020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Val199Met
CA10600919
NM_007299.4:c.595G>A