ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829705574
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
531218
ClinVar RCV Id:
RCV000637346
RCV000771639
RCV001284547
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Pro1430Ala
CA10593144
NM_007300.4:c.4288C>G