ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829694698
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
944868
ClinVar RCV Id:
RCV001215363
RCV001800970
RCV003316833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Pro1417Arg
CA10592754
NM_007297.4:c.4250C>G