ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268126
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000112162
RCV000562256
RCV001342448
RCV003125888
ClinVar Variation:
54974
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Pro1238Arg
CA002381
NM_007294.4:c.3713C>G