ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829686781
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54642
ClinVar RCV Id:
RCV000047926
RCV000112171
RCV000223325
RCV003493428
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ile42Met
CA001760
NM_007297.4:c.126C>G