ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645448388
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000223230
RCV001238345
ClinVar Variation:
230563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ala344Val
CA10580683
NM_007294.4:c.1031C>T